Variant report

Variant	esv1813824
Chromosome Location	chr7:129379450-129424461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1019)
CpG islands
(count:3116)
Chromatin interactive
region (count:110)
LncRNA
region (count:5)
Mature miRNA
region (count: 6)
miRNA target
sites (count:0)

(count:1019 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:129389904-129390267	K562	blood:	n/a	n/a
2	ATF2	chr7:129419771-129420075	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr7:129415813-129416557	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr7:129419357-129419901	K562	blood:	n/a	n/a
5	ATF3	chr7:129408622-129409358	K562	blood:	n/a	n/a
6	BACH1	chr7:129422266-129422970	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:129410289-129410317	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:129423258-129423326	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr7:129408697-129409362	K562	blood:	n/a	n/a
10	BCL3	chr7:129420172-129420625	A549	lung:	n/a	n/a
11	BHLHE40	chr7:129419742-129420589	K562	blood:	n/a	chr7:129419835-129419851
12	BHLHE40	chr7:129420331-129420566	HepG2	liver:	n/a	n/a
13	BHLHE40	chr7:129389868-129390302	K562	blood:	n/a	n/a
14	BHLHE40	chr7:129419031-129419032	K562	blood:	n/a	n/a
15	BHLHE40	chr7:129408534-129409657	K562	blood:	n/a	n/a
16	BRCA1	chr7:129420108-129420353	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr7:129419799-129419870	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr7:129404143-129404905	K562	blood:	n/a	n/a
19	CBX3	chr7:129419447-129421913	K562	blood:	n/a	n/a
20	CBX3	chr7:129408341-129409758	K562	blood:	n/a	n/a
21	CBX3	chr7:129389835-129390529	K562	blood:	n/a	n/a
22	CBX3	chr7:129408429-129409190	K562	blood:	n/a	n/a
23	CBX3	chr7:129418545-129419440	K562	blood:	n/a	n/a
24	CCNT2	chr7:129409004-129409444	K562	blood:	n/a	chr7:129409245-129409254
25	CCNT2	chr7:129402473-129402722	K562	blood:	n/a	n/a
26	CCNT2	chr7:129389971-129390288	K562	blood:	n/a	chr7:129390221-129390230
27	CCNT2	chr7:129418889-129420689	K562	blood:	n/a	chr7:129420453-129420462
28	CCNT2	chr7:129392721-129392912	K562	blood:	n/a	n/a
29	CEBPB	chr7:129420039-129420553	MCF-7	breast:	n/a	n/a
30	CEBPB	chr7:129388576-129388885	HepG2	liver:	n/a	n/a
31	CEBPB	chr7:129389918-129390183	K562	blood:	n/a	n/a
32	CEBPB	chr7:129389845-129390411	K562	blood:	n/a	n/a
33	CEBPB	chr7:129420138-129420449	K562	blood:	n/a	n/a
34	CEBPB	chr7:129420169-129420615	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr7:129420172-129420459	K562	blood:	n/a	n/a
36	CEBPB	chr7:129415509-129415845	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr7:129386448-129386760	HepG2	liver:	n/a	n/a
38	CEBPB	chr7:129388553-129388870	IMR90	lung:	n/a	n/a
39	CEBPB	chr7:129389746-129390343	K562	blood:	n/a	n/a
40	CEBPB	chr7:129416064-129416607	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr7:129419845-129419891	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr7:129420089-129420614	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr7:129386518-129386672	A549	lung:	n/a	n/a
44	CEBPB	chr7:129420180-129420293	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr7:129388653-129388846	K562	blood:	n/a	n/a
46	CEBPB	chr7:129388610-129388874	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr7:129420128-129420431	HepG2	liver:	n/a	n/a
48	CEBPB	chr7:129420062-129420461	HepG2	liver:	n/a	n/a
49	CEBPB	chr7:129407819-129408160	K562	blood:	n/a	n/a
50	CEBPB	chr7:129420137-129420480	A549	lung:	n/a	n/a

(count:3116 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:129401208-129401258	GM12891	blood:	n/a
2	chr7:129412730-129412780	AG09319	gingival:	n/a
3	chr7:129419728-129419778	ProgFib	skin:	n/a
4	chr7:129414860-129414910	SK-N-MC	brain:	n/a
5	chr7:129410417-129410467	GM12892	blood:	n/a
6	chr7:129401208-129401258	GM12891	blood:	n/a
7	chr7:129412730-129412780	AG09319	gingival:	n/a
8	chr7:129419728-129419778	ProgFib	skin:	n/a
9	chr7:129414860-129414910	SK-N-MC	brain:	n/a
10	chr7:129410417-129410467	GM12892	blood:	n/a
11	chr7:129415301-129415351	RPTEC	kidney:	n/a
12	chr7:129411088-129411138	Caco-2	colon:	n/a
13	chr7:129423354-129423404	HRE	kidney:	n/a
14	chr7:129402221-129402271	Hepatocyte	liver:	n/a
15	chr7:129417053-129417103	CMK	blood:	n/a
16	chr7:129420224-129420274	Hela-S3	cervix:	n/a
17	chr7:129399249-129399299	NB4	blood:	n/a
18	chr7:129382312-129382362	GM12891	blood:	n/a
19	chr7:129410435-129410485	SKMC	muscle:	n/a
20	chr7:129410792-129410842	AG04449	skin:	fetal
21	chr7:129411088-129411138	GM12878	blood:	n/a
22	chr7:129414894-129414944	MCF-7	breast:	n/a
23	chr7:129423218-129423268	ProgFib	skin:	n/a
24	chr7:129420224-129420274	GM19239	blood:	n/a
25	chr7:129417053-129417103	SK-N-SH_RA	brain:	n/a
26	chr7:129415994-129416044	IMR90	lung:	fetal
27	chr7:129414627-129414677	GM12892	blood:	n/a
28	chr7:129414694-129414744	NT2-D1	testis:	n/a
29	chr7:129414694-129414744	IMR90	lung:	fetal
30	chr7:129410657-129410707	AG09309	skin:	n/a
31	chr7:129410792-129410842	HMEC	breast:	n/a
32	chr7:129415994-129416044	LNCaP	prostate:	n/a
33	chr7:129415301-129415351	GM12878	blood:	n/a
34	chr7:129414694-129414744	HCT-116	colon:	n/a
35	chr7:129382312-129382362	HEEpiC	esophagus:	n/a
36	chr7:129410435-129410485	IMR90	lung:	fetal
37	chr7:129417053-129417103	IMR90	lung:	fetal
38	chr7:129419676-129419726	AoSMC	blood vessel:	n/a
39	chr7:129410739-129410789	NB4	blood:	n/a
40	chr7:129423354-129423404	HEK293	kidney:	embryo
41	chr7:129410435-129410485	HRCEpiC	kidney:	n/a
42	chr7:129410739-129410789	HCT-116	colon:	n/a
43	chr7:129418470-129418520	GM12892	blood:	n/a
44	chr7:129419676-129419726	PANC-1	pancreas:	n/a
45	chr7:129415301-129415351	U87	brain:	n/a
46	chr7:129418470-129418520	HEK293	kidney:	embryo
47	chr7:129420224-129420274	HCT-116	colon:	n/a
48	chr7:129418058-129418108	T-47D	breast:	n/a
49	chr7:129419676-129419726	HRPEpiC	eye:	n/a
50	chr7:129414746-129414796	SK-N-MC	brain:	n/a

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:129372539..129374355-chr7:129379814..129381363,2	MCF-7	breast:
2	chr7:129361298..129364140-chr7:129418293..129421008,3	K562	blood:
3	chr7:129403367..129409123-chr7:129416069..129420416,9	MCF-7	breast:
4	chr7:129251251..129253646-chr7:129418234..129419818,2	K562	blood:
5	chr7:128693748..128696254-chr7:129419294..129421052,2	MCF-7	breast:
6	chr7:129357804..129359561-chr7:129418214..129420196,2	MCF-7	breast:
7	chr12:13056429..13057624-chr7:129419574..129420598,3	Hela-S3	cervix:
8	chr7:129376991..129379668-chr7:129401453..129404234,2	K562	blood:
9	chr7:129322657..129325540-chr7:129420141..129423047,2	MCF-7	breast:
10	chr7:129399819..129402495-chr7:129407952..129409569,2	MCF-7	breast:
11	chr7:129358443..129361944-chr7:129389455..129392209,3	K562	blood:
12	chr7:129405587..129407714-chr7:129429334..129431431,2	MCF-7	breast:
13	chr5:180649949..180650908-chr7:129419467..129420319,2	Hela-S3	cervix:
14	chr7:129384038..129386757-chr7:129399620..129402491,2	K562	blood:
15	chr7:129255097..129256981-chr7:129420268..129421887,2	MCF-7	breast:
16	chr7:129419383..129421435-chr7:129463555..129465086,2	K562	blood:
17	chr7:129405931..129408629-chr7:129412296..129413845,2	MCF-7	breast:
18	chr7:129382727..129384443-chr7:129387438..129389371,2	MCF-7	breast:
19	chr14:74079152..74079900-chr7:129419939..129420479,2	Hela-S3	cervix:
20	chr7:129388926..129391795-chr7:129396383..129398661,2	MCF-7	breast:
21	chr7:129403968..129406043-chr7:129441740..129443595,2	K562	blood:
22	chr7:129234574..129236210-chr7:129418746..129420811,2	K562	blood:
23	chr7:129350525..129352273-chr7:129405783..129407526,2	K562	blood:
24	chr7:129377464..129380811-chr7:129382602..129385925,4	MCF-7	breast:
25	chr7:129349986..129354083-chr7:129418762..129421039,4	MCF-7	breast:
26	chr7:129380203..129383393-chr7:129464866..129467037,3	MCF-7	breast:
27	chr7:129362619..129364140-chr7:129419422..129421008,2	K562	blood:
28	chr7:129405931..129408629-chr7:129412296..129413845,2	MCF-7	breast:
29	chr7:129386194..129388656-chr7:129389433..129393027,3	K562	blood:
30	chr7:129399801..129403124-chr7:129418959..129421278,3	MCF-7	breast:
31	chr7:129391336..129392932-chr7:129418780..129420324,2	MCF-7	breast:
32	chr17:73285817..73286679-chr7:129419608..129420219,2	NB4	blood:
33	chr7:129418555..129422595-chr7:129463586..129466468,3	K562	blood:
34	chr7:129389134..129391918-chr7:129464788..129466826,2	MCF-7	breast:
35	chr7:129419042..129420016-chr7:129592000..129592671,2	MCF-7	breast:
36	chr7:129385525..129387698-chr7:129463906..129465619,2	K562	blood:
37	chr7:129389570..129391224-chr7:129418594..129421023,2	MCF-7	breast:
38	chr7:129417115..129420067-chr7:129435011..129437145,2	MCF-7	breast:
39	chr7:128809246..128811789-chr7:129418189..129419962,2	MCF-7	breast:
40	chr7:129379929..129382728-chr7:129402086..129404067,3	K562	blood:
41	chr7:129386194..129388656-chr7:129389433..129393027,3	K562	blood:
42	chr7:129374523..129378775-chr7:129380102..129386585,8	K562	blood:
43	chr7:129262066..129264067-chr7:129418277..129420073,2	MCF-7	breast:
44	chr7:129377464..129380811-chr7:129382602..129385925,4	MCF-7	breast:
45	chr7:129398154..129400478-chr7:129410669..129413276,2	MCF-7	breast:
46	chr7:129358443..129361588-chr7:129390162..129392270,3	K562	blood:
47	chr7:129390482..129392654-chr7:129396448..129398436,2	MCF-7	breast:
48	chr7:129388426..129393265-chr7:129394279..129399447,9	K562	blood:
49	chr7:129418675..129421375-chr7:129432502..129435313,2	K562	blood:
50	chr7:129303898..129304485-chr7:129418948..129419668,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-3	chr7:129402907-129403246	NONHSAT123305
2	lnc-UBE2H-1	chr7:129423210-129423327	XLOC_006606
3	lnc-RP11-305M3.3.1-4	chr7:129396351-129396567	NONHSAT123304
4	lnc-UBE2H-1	chr7:129424214-129424311	XLOC_006606
5	lnc-UBE2H-3	chr7:129408291-129408711	NONHSAT123305

miRNA name	Chromosome Location	mirBase accession
hsa-miR-183-5p	chr7:129414807-129414828	MIMAT0000261
hsa-miR-182-3p	chr7:129410246-129410266	MIMAT0000260
hsa-miR-96-3p	chr7:129414537-129414558	MIMAT0004510
hsa-miR-183-3p	chr7:129414768-129414789	MIMAT0004560
hsa-miR-96-5p	chr7:129414579-129414601	MIMAT0000095
hsa-miR-182-5p	chr7:129410287-129410310	MIMAT0000259

No data

Variant related genes	Relation type
MIR96	TF binding region
MIR183	TF binding region
RNA5SP244	TF binding region
MIR182	TF binding region
MIR96	CpG island
MIR183	CpG island
RNA5SP244	CpG island
MIR182	CpG island
ENSG00000146063	chromatin interactions
ENSG00000106459	chromatin interactions
ENSG00000207691	chromatin interactions
ENSG00000103274	chromatin interactions
ENSG00000199158	chromatin interactions
ENSG00000212238	chromatin interactions
ENSG00000091732	chromatin interactions
ENSG00000064419	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000231636	chromatin interactions
ENSG00000230359	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000273329	chromatin interactions
ENSG00000186591	chromatin interactions
FLOT1	Mature miRNA region
MTUS1	Mature miRNA region
USP22	Mature miRNA region
FBXO21	Mature miRNA region
BTRC	Mature miRNA region
DOCK1	Mature miRNA region
PROSC	Mature miRNA region
SNX16	Mature miRNA region
MGST1	Mature miRNA region
PIK3C2A	Mature miRNA region
GNL3	Mature miRNA region
SLC39A1	Mature miRNA region
TWISTNB	Mature miRNA region
GCC1	Mature miRNA region
KIAA0430	Mature miRNA region
FOXO3	Mature miRNA region
GSR	Mature miRNA region
HTR1B	Mature miRNA region
DGAT1	Mature miRNA region
THAP9	Mature miRNA region
SHISA2	Mature miRNA region
PPP1R12A	Mature miRNA region
BTAF1	Mature miRNA region
IDH2	Mature miRNA region
PCOLCE2	Mature miRNA region
PRKAA2	Mature miRNA region
BAG1	Mature miRNA region
LAPTM4B	Mature miRNA region
CYLD	Mature miRNA region
PAPD5	Mature miRNA region
IZUMO2	Mature miRNA region
RIF1	Mature miRNA region
LBR	Mature miRNA region
PON2	Mature miRNA region
GUCD1	Mature miRNA region
MASTL	Mature miRNA region
SFSWAP	Mature miRNA region
SLC31A1	Mature miRNA region
LENG8	Mature miRNA region
RPS4X	Mature miRNA region
GSPT1	Mature miRNA region
FAM105B	Mature miRNA region
CDKN1A	Mature miRNA region
UBE2N	Mature miRNA region
HMGCS1	Mature miRNA region
HOXA5	Mature miRNA region
TTF2	Mature miRNA region
DEK	Mature miRNA region
ITPR3	Mature miRNA region
LYPLA1	Mature miRNA region
RELA	Mature miRNA region
ITGA5	Mature miRNA region
ARHGDIA	Mature miRNA region
NIPA1	Mature miRNA region
TUT1	Mature miRNA region
FOXK2	Mature miRNA region
FRS2	Mature miRNA region
LARS	Mature miRNA region
RBM12	Mature miRNA region
RBM34	Mature miRNA region
CLIC1	Mature miRNA region
FOXF2	Mature miRNA region
PEAK1	Mature miRNA region
RDH11	Mature miRNA region
ARHGAP32	Mature miRNA region
ANO6	Mature miRNA region
GAS1	Mature miRNA region
PSEN1	Mature miRNA region
DDIT3	Mature miRNA region
SEC61A2	Mature miRNA region
PMS2	Mature miRNA region
SCARB1	Mature miRNA region
KIF2A	Mature miRNA region
RCN2	Mature miRNA region
CAPNS1	Mature miRNA region
RPL5	Mature miRNA region
XIAP	Mature miRNA region
EFNB2	Mature miRNA region
ST13	Mature miRNA region
EP300	Mature miRNA region
COMMD8	Mature miRNA region
FEN1	Mature miRNA region
RARG	Mature miRNA region
CHML	Mature miRNA region
HARS	Mature miRNA region
TXNIP	Mature miRNA region
ZMIZ1	Mature miRNA region
SMIM12	Mature miRNA region
SMAD4	Mature miRNA region
CDON	Mature miRNA region
PHF14	Mature miRNA region
ZC3H4	Mature miRNA region
GTF2A1	Mature miRNA region
TNRC18	Mature miRNA region
BRIP1	Mature miRNA region
KNTC1	Mature miRNA region
SRSF2	Mature miRNA region
TMEM184C	Mature miRNA region
TSPAN14	Mature miRNA region
API5	Mature miRNA region
CSNK2A1	Mature miRNA region
PSMD13	Mature miRNA region
PDCD6	Mature miRNA region
CAMTA1	Mature miRNA region
ABCC10	Mature miRNA region
CISD2	Mature miRNA region
RPL23	Mature miRNA region
RPAP2	Mature miRNA region
SYNGR2	Mature miRNA region
MSH2	Mature miRNA region
STAG2	Mature miRNA region
ZBTB34	Mature miRNA region
FKBPL	Mature miRNA region
RAB3IP	Mature miRNA region
PLOD2	Mature miRNA region
CREB1	Mature miRNA region
HINT1	Mature miRNA region
STK33	Mature miRNA region
SPIN4	Mature miRNA region
ASNS	Mature miRNA region
PDCD4	Mature miRNA region
ARHGAP21	Mature miRNA region
ERC1	Mature miRNA region
ATXN1	Mature miRNA region
PRKCE	Mature miRNA region
MYBBP1A	Mature miRNA region
AUH	Mature miRNA region
WASH2P	Mature miRNA region
MKL1	Mature miRNA region
HYOU1	Mature miRNA region
UQCRC1	Mature miRNA region
HOXA9	Mature miRNA region
PREB	Mature miRNA region
ATP5O	Mature miRNA region
FAT2	Mature miRNA region
GATA6	Mature miRNA region
RCC2	Mature miRNA region
HLA-A	Mature miRNA region
DTYMK	Mature miRNA region
EEF1A1	Mature miRNA region
ABCF1	Mature miRNA region
RALGDS	Mature miRNA region
REEP3	Mature miRNA region
PRKAR1A	Mature miRNA region
POLH	Mature miRNA region
UBA1	Mature miRNA region
KDELC2	Mature miRNA region
C10orf2	Mature miRNA region
SERTAD2	Mature miRNA region
FAM175B	Mature miRNA region
SLC35B4	Mature miRNA region
PRMT5	Mature miRNA region
HCFC1	Mature miRNA region
PAQR4	Mature miRNA region
KLHL24	Mature miRNA region
CR1	Mature miRNA region
PTPN9	Mature miRNA region
ELAC2	Mature miRNA region
SLAIN1	Mature miRNA region
CNOT6	Mature miRNA region
MED1	Mature miRNA region
ALKBH5	Mature miRNA region
EZR	Mature miRNA region
CLOCK	Mature miRNA region
CTDSPL	Mature miRNA region
STIP1	Mature miRNA region
C5orf24	Mature miRNA region
SLC25A14	Mature miRNA region
PTPN11	Mature miRNA region
PFN1	Mature miRNA region
JAZF1	Mature miRNA region
GAPDH	Mature miRNA region
USP8	Mature miRNA region
PHF19	Mature miRNA region
APITD1	Mature miRNA region
ADCY6	Mature miRNA region
SUPT4H1	Mature miRNA region
STK40	Mature miRNA region
MYCBP2	Mature miRNA region
KAT2A	Mature miRNA region
ZC3H18	Mature miRNA region
CCND2	Mature miRNA region
TMEM245	Mature miRNA region
TMEM108	Mature miRNA region
ERO1L	Mature miRNA region
ATP13A3	Mature miRNA region
DMWD	Mature miRNA region
AKAP12	Mature miRNA region
ITPKB	Mature miRNA region
ARFGAP2	Mature miRNA region
RC3H2	Mature miRNA region
GLUL	Mature miRNA region
SGK3	Mature miRNA region
CASC3	Mature miRNA region
USP19	Mature miRNA region
OPN3	Mature miRNA region
C15orf39	Mature miRNA region
SNRPD3	Mature miRNA region
OTUD4	Mature miRNA region
PROK2	Mature miRNA region
RNF41	Mature miRNA region
UBXN7	Mature miRNA region
KIF5C	Mature miRNA region
TSC22D3	Mature miRNA region
SLC2A3	Mature miRNA region
SRSF10	Mature miRNA region
PPRC1	Mature miRNA region
TRIM37	Mature miRNA region
ITGB1	Mature miRNA region
AAMP	Mature miRNA region
UBP1	Mature miRNA region
PTP4A2	Mature miRNA region
FOXO1	Mature miRNA region
RTN4	Mature miRNA region
DAP	Mature miRNA region
PDE8A	Mature miRNA region
WDR53	Mature miRNA region
ZFHX4	Mature miRNA region
TRIT1	Mature miRNA region
CYB5D2	Mature miRNA region
C18orf25	Mature miRNA region
SH3D19	Mature miRNA region
CGGBP1	Mature miRNA region
EIF4G1	Mature miRNA region
USP16	Mature miRNA region
SNRPA1	Mature miRNA region
ACTN4	Mature miRNA region
SNAI2	Mature miRNA region
HNRNPL	Mature miRNA region
TNRC6B	Mature miRNA region
NHLRC3	Mature miRNA region
HSP90AA1	Mature miRNA region
RPS6	Mature miRNA region
MCM4	Mature miRNA region
FAM171A1	Mature miRNA region
FAM188A	Mature miRNA region
PGAM1	Mature miRNA region
EIF4A3	Mature miRNA region
KRAS	Mature miRNA region
PPP3R1	Mature miRNA region
POMP	Mature miRNA region
TTC28	Mature miRNA region
SNX7	Mature miRNA region
GLO1	Mature miRNA region
CNNM3	Mature miRNA region
ADSS	Mature miRNA region
BAG4	Mature miRNA region
P4HB	Mature miRNA region
KDELR1	Mature miRNA region
MYO10	Mature miRNA region
NUB1	Mature miRNA region
IGF1R	Mature miRNA region
UBE2Z	Mature miRNA region
MTSS1	Mature miRNA region
NAA30	Mature miRNA region
KLHL23	Mature miRNA region
RBM15B	Mature miRNA region
HNRNPM	Mature miRNA region
NUFIP2	Mature miRNA region
GNB2L1	Mature miRNA region
TRIM4	Mature miRNA region
YWHAG	Mature miRNA region
MTHFD2L	Mature miRNA region
CCND1	Mature miRNA region
RLF	Mature miRNA region
RPS3	Mature miRNA region
ZYX	Mature miRNA region
FOXN2	Mature miRNA region
TAOK1	Mature miRNA region
TUBB1	Mature miRNA region
YTHDC2	Mature miRNA region
HIPK2	Mature miRNA region
REV3L	Mature miRNA region
ITGA8	Mature miRNA region
C14orf1	Mature miRNA region
NHSL2	Mature miRNA region
BCL2	Mature miRNA region
TPRG1L	Mature miRNA region
KLHL15	Mature miRNA region
TNKS1BP1	Mature miRNA region
GNL1	Mature miRNA region
ADNP2	Mature miRNA region
TIMELESS	Mature miRNA region
WNK1	Mature miRNA region
ZFAT	Mature miRNA region
RPLP0	Mature miRNA region
APPL1	Mature miRNA region
CCNB1	Mature miRNA region
CBX6	Mature miRNA region
EDEM1	Mature miRNA region
HNRNPDL	Mature miRNA region
CS	Mature miRNA region
MTF2	Mature miRNA region
BRPF1	Mature miRNA region
HNRNPA1	Mature miRNA region
RECK	Mature miRNA region
HSPA1B	Mature miRNA region
TMPO	Mature miRNA region
ACVR1B	Mature miRNA region
SRXN1	Mature miRNA region
FMNL3	Mature miRNA region
LARP1	Mature miRNA region
SENP1	Mature miRNA region
MOXD1	Mature miRNA region
C1orf174	Mature miRNA region
NEO1	Mature miRNA region
B4GALT3	Mature miRNA region
SLC25A46	Mature miRNA region
LSM14A	Mature miRNA region
VPS51	Mature miRNA region
EVI5	Mature miRNA region
MITF	Mature miRNA region
NOTCH2	Mature miRNA region
CBWD3	Mature miRNA region
NIPBL	Mature miRNA region
PRDM16	Mature miRNA region
ECT2	Mature miRNA region
TRO	Mature miRNA region
SLC5A3	Mature miRNA region
UCHL3	Mature miRNA region
RAB5B	Mature miRNA region
THOC2	Mature miRNA region
TUBA1B	Mature miRNA region
BCL11B	Mature miRNA region
INSIG1	Mature miRNA region
TRAF4	Mature miRNA region
RPS29	Mature miRNA region
ARHGEF5	Mature miRNA region
FLII	Mature miRNA region
DYNC1H1	Mature miRNA region
EGR1	Mature miRNA region
ZC3H15	Mature miRNA region
TSR1	Mature miRNA region
FAM110B	Mature miRNA region
FAM104A	Mature miRNA region
TERF2	Mature miRNA region
TRIM28	Mature miRNA region
FNTB	Mature miRNA region
CCT3	Mature miRNA region
SMEK1	Mature miRNA region
ABHD17C	Mature miRNA region
PLEKHM1	Mature miRNA region
ARHGEF2	Mature miRNA region
CEPT1	Mature miRNA region
ETV3	Mature miRNA region
SERTAD4	Mature miRNA region
NKIRAS2	Mature miRNA region

Extended variants
information (count: 1740 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1740 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541612639	chr7:129379454-129379455	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560095129	chr7:129379592-129379593	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142704453	chr7:129379650-129379651	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528209937	chr7:129379695-129379696	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368046010	chr7:129379758-129379759	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2402970	chr7:129379801-129379802	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs530549253	chr7:129379804-129379805	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145661622	chr7:129379810-129379811	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs202187947	chr7:129379812-129379813	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77034566	chr7:129379859-129379860	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146409415	chr7:129380018-129380019	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs2402971	chr7:129380106-129380107	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530554437	chr7:129380136-129380137	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546341349	chr7:129380153-129380154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28585680	chr7:129380189-129380190	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7796553	chr7:129380243-129380244	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1986403	chr7:129380275-129380276	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570009105	chr7:129380278-129380279	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4388399	chr7:129380307-129380308	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559118437	chr7:129380316-129380317	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570914199	chr7:129380401-129380402	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535242927	chr7:129380413-129380414	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs116741324	chr7:129380419-129380420	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7777812	chr7:129380421-129380422	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143250334	chr7:129380425-129380426	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs146702435	chr7:129380431-129380432	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140299686	chr7:129380461-129380462	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577774794	chr7:129380503-129380504	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150235867	chr7:129380521-129380522	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563840160	chr7:129380547-129380548	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528132943	chr7:129380585-129380586	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35757026	chr7:129380629-129380630	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10267039	chr7:129380647-129380648	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs182534821	chr7:129380651-129380652	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs17556909	chr7:129380695-129380696	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550833875	chr7:129380752-129380753	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375250666	chr7:129380834-129380835	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145817879	chr7:129380853-129380854	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368236351	chr7:129380868-129380869	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200610896	chr7:129380907-129380908	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552567193	chr7:129380933-129380934	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571000194	chr7:129380955-129380956	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs535120859	chr7:129380993-129380994	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553320124	chr7:129380997-129380998	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568624880	chr7:129381039-129381040	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535640818	chr7:129381062-129381063	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs557656470	chr7:129381078-129381079	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs557586857	chr7:129381095-129381096	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs6948697	chr7:129381156-129381157	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs11761017	chr7:129381199-129381200	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	18458333	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1825 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129319000-129380000	Weak transcription	NHDF-Ad	bronchial
2	chr7:129339200-129381800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:129343200-129379600	Weak transcription	Stomach Mucosa	stomach
4	chr7:129348200-129392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:129351600-129394800	Weak transcription	Hela-S3	cervix
6	chr7:129355200-129380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:129357000-129392400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:129360600-129394800	Weak transcription	Small Intestine	intestine
9	chr7:129361800-129392400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:129362200-129380600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:129362200-129381200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:129362200-129387800	Strong transcription	Liver	Liver
13	chr7:129364200-129397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:129365200-129388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
16	chr7:129369200-129380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:129369400-129379600	Weak transcription	Right Atrium	heart
18	chr7:129369600-129380400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
20	chr7:129372000-129381000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:129372000-129383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:129372000-129390000	Weak transcription	HMEC	breast
23	chr7:129372200-129381000	Weak transcription	HepG2	liver
24	chr7:129372200-129381600	Weak transcription	Fetal Brain Female	brain
25	chr7:129372200-129387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:129372200-129390000	Weak transcription	NHEK	skin
27	chr7:129372200-129397800	Weak transcription	NH-A	brain
28	chr7:129372400-129398800	Weak transcription	NHLF	lung
29	chr7:129373200-129381000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:129373400-129389200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:129373600-129381000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:129373600-129385600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:129373800-129385200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:129373800-129392000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:129374400-129380800	Weak transcription	Osteobl	bone
36	chr7:129374600-129394800	Weak transcription	Gastric	stomach
37	chr7:129374800-129386600	Weak transcription	Esophagus	oesophagus
38	chr7:129374800-129390000	Weak transcription	Colonic Mucosa	Colon
39	chr7:129375000-129379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:129375000-129379600	Weak transcription	HSMMtube	muscle
41	chr7:129375000-129381400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:129375000-129386600	Weak transcription	GM12878-XiMat	blood
43	chr7:129375000-129390000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:129375000-129391600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:129375000-129394800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:129375000-129395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:129375200-129380000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:129375400-129379600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:129375600-129379600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:129375600-129381400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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