Variant report

Variant	nsv9742
Chromosome Location	chr19:52187538-52221742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2006)
CpG islands
(count:1834)
Chromatin interactive
region (count:58)
LncRNA
region (count:3)
Mature miRNA
region (count: 6)
miRNA target
sites (count:0)

(count:2006 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52207264-52207483	K562	blood:	n/a	n/a
2	ARID3A	chr19:52204981-52205633	K562	blood:	n/a	n/a
3	ARID3A	chr19:52216127-52216237	K562	blood:	n/a	n/a
4	ATF1	chr19:52204949-52205376	K562	blood:	n/a	n/a
5	ATF2	chr19:52207454-52207804	GM12878	blood:	n/a	chr19:52207657-52207671
6	ATF2	chr19:52205683-52206074	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr19:52191947-52192445	A549	lung:	n/a	n/a
8	ATF3	chr19:52191900-52192528	A549	lung:	n/a	n/a
9	ATF3	chr19:52207129-52207570	A549	lung:	n/a	chr19:52207448-52207457 chr19:52207161-52207170 chr19:52207444-52207464 chr19:52207214-52207223
10	ATF3	chr19:52207096-52207734	A549	lung:	n/a	chr19:52207448-52207457 chr19:52207161-52207170 chr19:52207444-52207464 chr19:52207214-52207223
11	ATF3	chr19:52193598-52194206	A549	lung:	n/a	chr19:52194168-52194177
12	BACH1	chr19:52205255-52205374	K562	blood:	n/a	n/a
13	BACH1	chr19:52216051-52216193	K562	blood:	n/a	n/a
14	BACH1	chr19:52207183-52207531	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr19:52207236-52207418	K562	blood:	n/a	n/a
16	BCL3	chr19:52212784-52213373	A549	lung:	n/a	n/a
17	BCL3	chr19:52191859-52192877	A549	lung:	n/a	chr19:52192591-52192604 chr19:52192366-52192379 chr19:52192370-52192383
18	BCL3	chr19:52194287-52195011	A549	lung:	n/a	n/a
19	BCL3	chr19:52207014-52207930	A549	lung:	n/a	n/a
20	BCL3	chr19:52206715-52208030	A549	lung:	n/a	n/a
21	BCL3	chr19:52218019-52218627	A549	lung:	n/a	n/a
22	BCL3	chr19:52212749-52214169	A549	lung:	n/a	n/a
23	BCL3	chr19:52193536-52194197	A549	lung:	n/a	chr19:52194168-52194181 chr19:52194169-52194178 chr19:52193878-52193887
24	BCL3	chr19:52212019-52212532	A549	lung:	n/a	n/a
25	BCL3	chr19:52191210-52191841	A549	lung:	n/a	n/a
26	BCL3	chr19:52217768-52219081	A549	lung:	n/a	n/a
27	BCL3	chr19:52191885-52194262	A549	lung:	n/a	chr19:52193326-52193335 chr19:52194168-52194181 chr19:52192591-52192604 chr19:52192366-52192379 chr19:52194169-52194178 chr19:52193878-52193887 chr19:52192370-52192383 chr19:52193169-52193182 chr19:52193321-52193334
28	BCL3	chr19:52190975-52191703	A549	lung:	n/a	n/a
29	BCL3	chr19:52213388-52214137	A549	lung:	n/a	n/a
30	BCL3	chr19:52216373-52217627	A549	lung:	n/a	n/a
31	BCL3	chr19:52192898-52193378	A549	lung:	n/a	chr19:52193326-52193335 chr19:52193169-52193182 chr19:52193321-52193334
32	BCL3	chr19:52214225-52215393	A549	lung:	n/a	n/a
33	BCL3	chr19:52215627-52217718	A549	lung:	n/a	n/a
34	BCL3	chr19:52205649-52206142	A549	lung:	n/a	n/a
35	BCLAF1	chr19:52207399-52207804	GM12878	blood:	n/a	n/a
36	BCLAF1	chr19:52207241-52207875	GM12878	blood:	n/a	n/a
37	BHLHE40	chr19:52206435-52206651	K562	blood:	n/a	n/a
38	BHLHE40	chr19:52191580-52191645	K562	blood:	n/a	n/a
39	BHLHE40	chr19:52207219-52207827	K562	blood:	n/a	n/a
40	BHLHE40	chr19:52207244-52207864	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:52191942-52192398	K562	blood:	n/a	n/a
42	BHLHE40	chr19:52193149-52193339	K562	blood:	n/a	chr19:52193316-52193332
43	BHLHE40	chr19:52206906-52206925	K562	blood:	n/a	n/a
44	BHLHE40	chr19:52207341-52207676	HepG2	liver:	n/a	n/a
45	BHLHE40	chr19:52204711-52206043	K562	blood:	n/a	n/a
46	BRCA1	chr19:52192207-52192298	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr19:52193760-52194172	K562	blood:	n/a	n/a
48	CBX3	chr19:52218122-52218491	K562	blood:	n/a	n/a
49	CBX3	chr19:52204549-52204959	K562	blood:	n/a	n/a
50	CBX3	chr19:52191887-52192322	K562	blood:	n/a	n/a

(count:1834 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52195291-52195341	Caco-2	colon:	n/a
2	chr19:52217388-52217438	HCM	heart:	n/a
3	chr19:52206224-52206274	AG09309	skin:	n/a
4	chr19:52207353-52207403	AG10803	skin:	n/a
5	chr19:52195291-52195341	Caco-2	colon:	n/a
6	chr19:52217388-52217438	HCM	heart:	n/a
7	chr19:52206224-52206274	AG09309	skin:	n/a
8	chr19:52207353-52207403	AG10803	skin:	n/a
9	chr19:52206667-52206717	SKMC	muscle:	n/a
10	chr19:52196495-52196545	SK-N-SH_RA	brain:	n/a
11	chr19:52207269-52207319	Jurkat	blood:	n/a
12	chr19:52207653-52207703	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:52217388-52217438	Caco-2	colon:	n/a
14	chr19:52196495-52196545	Caco-2	colon:	n/a
15	chr19:52193776-52193826	HepG2	liver:	n/a
16	chr19:52207320-52207370	NB4	blood:	n/a
17	chr19:52195559-52195609	AG04449	skin:	fetal
18	chr19:52217022-52217072	Hepatocyte	liver:	n/a
19	chr19:52207353-52207403	GM12891	blood:	n/a
20	chr19:52218453-52218503	T-47D	breast:	n/a
21	chr19:52206224-52206274	PANC-1	pancreas:	n/a
22	chr19:52207592-52207642	HRPEpiC	eye:	n/a
23	chr19:52203721-52203771	AG09309	skin:	n/a
24	chr19:52209628-52209678	GM19239	blood:	n/a
25	chr19:52207353-52207403	IMR90	lung:	fetal
26	chr19:52206258-52206308	NH-A	brain:	n/a
27	chr19:52191468-52191518	HRCEpiC	kidney:	n/a
28	chr19:52207320-52207370	HEK293	kidney:	embryo
29	chr19:52217022-52217072	NHBE	bronchial:	n/a
30	chr19:52196034-52196084	RPTEC	kidney:	n/a
31	chr19:52210193-52210243	NT2-D1	testis:	n/a
32	chr19:52196034-52196084	AG10803	skin:	n/a
33	chr19:52207353-52207403	K562	blood:	n/a
34	chr19:52219484-52219534	AG04449	skin:	fetal
35	chr19:52207269-52207319	RPTEC	kidney:	n/a
36	chr19:52209628-52209678	NB4	blood:	n/a
37	chr19:52206446-52206496	HUVEC	blood vessel:	n/a
38	chr19:52206691-52206741	ProgFib	skin:	n/a
39	chr19:52206258-52206308	NHBE	bronchial:	n/a
40	chr19:52206912-52206962	GM12892	blood:	n/a
41	chr19:52217388-52217438	SK-N-SH_RA	brain:	n/a
42	chr19:52195499-52195549	A549	lung:	n/a
43	chr19:52207592-52207642	AoSMC	blood vessel:	n/a
44	chr19:52191468-52191518	SK-N-SH	brain:	n/a
45	chr19:52206258-52206308	HNPCEpiC	eye:	n/a
46	chr19:52196034-52196084	SK-N-MC	brain:	n/a
47	chr19:52207269-52207319	GM12878	blood:	n/a
48	chr19:52217022-52217072	HRCEpiC	kidney:	n/a
49	chr19:52206446-52206496	ovcar-3	ovarian:	n/a
50	chr19:52195499-52195549	CMK	blood:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:52190822..52192582-chr19:52204625..52207087,2	K562	blood:
2	chr19:52176167..52177672-chr19:52190052..52191714,2	MCF-7	breast:
3	chr19:52195958..52197871-chr19:52199159..52203308,3	MCF-7	breast:
4	chr19:52216356..52218873-chr19:52218955..52221873,2	MCF-7	breast:
5	chr19:52191774..52192450-chr3:55003928..55004428,2	HCT-116	colon:
6	chr19:52205132..52207221-chr19:52208927..52210926,2	K562	blood:
7	chr19:52199590..52202022-chr19:52311266..52313737,2	MCF-7	breast:
8	chr19:52215836..52216573-chr19:52280774..52281726,5	MCF-7	breast:
9	chr19:51979609..51981467-chr19:52190733..52192569,2	K562	blood:
10	chr19:52186234..52189243-chr19:52190984..52192960,3	K562	blood:
11	chr19:52213474..52215839-chr19:52229447..52232151,2	K562	blood:
12	chr19:52209655..52212195-chr19:52248161..52250236,2	K562	blood:
13	chr19:52205873..52210007-chr19:52211189..52216257,9	K562	blood:
14	chr19:52191235..52193231-chr19:52302966..52304607,2	MCF-7	breast:
15	chr12:50135431..50136207-chr19:52207060..52207844,2	Hela-S3	cervix:
16	chr19:52191148..52193451-chr19:52208033..52210074,2	MCF-7	breast:
17	chr17:48943612..48944270-chr19:52191708..52192701,3	HCT-116	colon:
18	chr19:52213445..52215561-chr19:52311102..52312961,2	MCF-7	breast:
19	chr19:52197003..52199691-chr19:52213714..52215992,2	MCF-7	breast:
20	chr19:52216020..52218332-chr19:52241843..52243372,2	MCF-7	breast:
21	chr19:52215661..52216484-chr19:52286408..52287282,3	MCF-7	breast:
22	chr19:52193714..52195914-chr19:52201685..52203516,2	K562	blood:
23	chr19:52192066..52193660-chr19:52283404..52285811,2	MCF-7	breast:
24	chr19:52190894..52195343-chr19:52204099..52207909,11	MCF-7	breast:
25	chr19:52195430..52197068-chr19:52208876..52211529,2	K562	blood:
26	chr19:52210301..52211912-chr19:52215119..52217997,2	K562	blood:
27	chr19:52216085..52216905-chr19:52311568..52312097,3	MCF-7	breast:
28	chr19:52196159..52199511-chr19:52202868..52206043,4	K562	blood:
29	chr19:52210196..52213453-chr19:52222345..52225170,3	K562	blood:
30	chr19:52191148..52193451-chr19:52208033..52210074,2	MCF-7	breast:
31	chr19:52189901..52192880-chr19:52273718..52275861,2	MCF-7	breast:
32	chr19:52171940..52173838-chr19:52191282..52193363,2	MCF-7	breast:
33	chr19:52210301..52211912-chr19:52215119..52217997,2	K562	blood:
34	chr19:52187385..52189056-chr2:236481480..236484200,2	MCF-7	breast:
35	chr19:52213601..52216157-chr19:52216893..52219769,2	MCF-7	breast:
36	chr19:52166500..52170915-chr19:52189684..52193816,5	MCF-7	breast:
37	chr19:52191800..52194773-chr19:52195976..52198030,3	K562	blood:
38	chr19:52213474..52218033-chr19:52227253..52233222,6	K562	blood:
39	chr19:52192175..52194202-chr19:52301235..52302921,2	MCF-7	breast:
40	chr19:52189832..52192322-chr19:52204625..52207481,2	K562	blood:
41	chr19:52186234..52189243-chr19:52190984..52192960,3	K562	blood:
42	chr19:52214081..52217958-chr19:52222891..52225862,3	K562	blood:
43	chr19:52191055..52194888-chr19:52301421..52305190,4	MCF-7	breast:
44	chr19:52216500..52217173-chr19:52286806..52287310,2	MCF-7	breast:
45	chr19:52198700..52202637-chr19:52203349..52207450,6	K562	blood:
46	chr19:52213601..52216157-chr19:52216893..52219769,2	MCF-7	breast:
47	chr19:52204118..52207726-chr19:52271324..52274498,3	K562	blood:
48	chr19:52196159..52199511-chr19:52202868..52206043,4	K562	blood:
49	chr19:52219107..52222029-chr19:52222398..52224089,2	K562	blood:
50	chr19:52191310..52193737-chr19:54959271..54961784,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPR2-1	chr19:52197463-52197808	ENSG00000182310.8
2	lnc-HAS1-1	chr19:52190491-52192335	NONHSAT067461
3	lnc-FPR2-1	chr19:52204911-52205023	ENSG00000182310.8

miRNA name	Chromosome Location	mirBase accession
hsa-let-7e-3p	chr19:52196091-52196112	MIMAT0004485
hsa-miR-125a-5p	chr19:52196521-52196544	MIMAT0000443
hsa-miR-99b-5p	chr19:52195871-52195892	MIMAT0000689
hsa-miR-99b-3p	chr19:52195909-52195930	MIMAT0004678
hsa-let-7e-5p	chr19:52196046-52196067	MIMAT0000066
hsa-miR-125a-3p	chr19:52196559-52196580	MIMAT0004602

No data

Variant related genes	Relation type
MIR99B	TF binding region
MIRLET7E	TF binding region
SPACA6P-AS	TF binding region
MIR125A	TF binding region
SPACA6P	TF binding region
ENSG00000273318	TF binding region
MIR99B	CpG island
MIRLET7E	CpG island
SPACA6P-AS	CpG island
MIR125A	CpG island
SPACA6P	CpG island
ENSG00000273318	CpG island
ENSG00000273318	chromatin interactions
ENSG00000207550	chromatin interactions
ENSG00000105509	chromatin interactions
ENSG00000226696	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000198972	chromatin interactions
ENSG00000171049	chromatin interactions
ENSG00000182310	chromatin interactions
ENSG00000208008	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000269959	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000213822	chromatin interactions
ENSG00000105379	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000167615	chromatin interactions
ENSG00000238486	chromatin interactions
DDHD2	Mature miRNA region
TANC2	Mature miRNA region
ARNT2	Mature miRNA region
WBSCR16	Mature miRNA region
TMEM97	Mature miRNA region
CYP2B6	Mature miRNA region
CA2	Mature miRNA region
MFN2	Mature miRNA region
CBX5	Mature miRNA region
NPDC1	Mature miRNA region
AEBP2	Mature miRNA region
CA5B	Mature miRNA region
LIF	Mature miRNA region
ALG13	Mature miRNA region
PDP2	Mature miRNA region
YWHAE	Mature miRNA region
MSMO1	Mature miRNA region
COX16	Mature miRNA region
SLC38A2	Mature miRNA region
PPP1R10	Mature miRNA region
TUBB4B	Mature miRNA region
LIN28A	Mature miRNA region
COX14	Mature miRNA region
NDUFS5	Mature miRNA region
RALBP1	Mature miRNA region
DHX15	Mature miRNA region
STARD7	Mature miRNA region
NME2	Mature miRNA region
SPTBN1	Mature miRNA region
WDR4	Mature miRNA region
G2E3	Mature miRNA region
GPS1	Mature miRNA region
PPIG	Mature miRNA region
SSB	Mature miRNA region
NT5DC2	Mature miRNA region
SALL1	Mature miRNA region
PUM2	Mature miRNA region
ARPC5	Mature miRNA region
TTC30B	Mature miRNA region
ATP5J2	Mature miRNA region
MRPS2	Mature miRNA region
RPA1	Mature miRNA region
ATXN2L	Mature miRNA region
NCKAP5L	Mature miRNA region
GALNT2	Mature miRNA region
POLR3D	Mature miRNA region
TDG	Mature miRNA region
PSMA6P1	Mature miRNA region
OMA1	Mature miRNA region
ZFP3	Mature miRNA region
PIGS	Mature miRNA region
IGF2BP2	Mature miRNA region
MAT2A	Mature miRNA region
ZFP62	Mature miRNA region
PAM	Mature miRNA region
ARID3B	Mature miRNA region
DCBLD2	Mature miRNA region
MTCH2	Mature miRNA region
NICN1	Mature miRNA region
PFN1	Mature miRNA region
ELMSAN1	Mature miRNA region
CCDC97	Mature miRNA region
FAM8A1	Mature miRNA region
UBL7	Mature miRNA region
FDPS	Mature miRNA region
CTSA	Mature miRNA region
LBX2	Mature miRNA region
SPRTN	Mature miRNA region
MT-ND1	Mature miRNA region
RPS2	Mature miRNA region
PHF3	Mature miRNA region
NAA60	Mature miRNA region
SP1	Mature miRNA region
EDC3	Mature miRNA region
ZNF776	Mature miRNA region
DCAF6	Mature miRNA region
LEPRE1	Mature miRNA region
IP6K1	Mature miRNA region
BRI3	Mature miRNA region
STAT2	Mature miRNA region
ARHGAP12	Mature miRNA region
ARID1A	Mature miRNA region
CREBBP	Mature miRNA region
SUZ12	Mature miRNA region
HOXC4	Mature miRNA region
HS6ST2	Mature miRNA region
CCNG1	Mature miRNA region
SLCO3A1	Mature miRNA region
RARA	Mature miRNA region
MACF1	Mature miRNA region
TRPS1	Mature miRNA region
KRBOX4	Mature miRNA region
ZNF793	Mature miRNA region
SHANK1	Mature miRNA region
GUCD1	Mature miRNA region
OAT	Mature miRNA region
MARCH5	Mature miRNA region
SERBP1	Mature miRNA region
MORC2	Mature miRNA region
UHRF1BP1	Mature miRNA region
CARM1	Mature miRNA region
MT-CO3	Mature miRNA region
CREB5	Mature miRNA region
ZFAND5	Mature miRNA region
MATR3	Mature miRNA region
ARCN1	Mature miRNA region
OTUD5	Mature miRNA region
MTFR1	Mature miRNA region
PET112	Mature miRNA region
WDR48	Mature miRNA region
BMP2K	Mature miRNA region
TNFAIP1	Mature miRNA region
MTOR	Mature miRNA region
USE1	Mature miRNA region
NDUFA3	Mature miRNA region
FKBP4	Mature miRNA region
IVD	Mature miRNA region
LRRC8A	Mature miRNA region
PRAMEF13	Mature miRNA region
RACGAP1	Mature miRNA region
TTLL12	Mature miRNA region
ERMP1	Mature miRNA region
GTPBP8	Mature miRNA region
TNFRSF1A	Mature miRNA region
RPSA	Mature miRNA region
PARD6B	Mature miRNA region
RPL35A	Mature miRNA region
SVIL	Mature miRNA region
FAM160B1	Mature miRNA region
TPI1	Mature miRNA region
SUPT4H1	Mature miRNA region
LSR	Mature miRNA region
COIL	Mature miRNA region
UBAP2L	Mature miRNA region
PTK2	Mature miRNA region
TCEB2	Mature miRNA region
ENSA	Mature miRNA region
RBM8A	Mature miRNA region
RPL9	Mature miRNA region
PHF23	Mature miRNA region
TRRAP	Mature miRNA region
ZNF805	Mature miRNA region
HIPK1	Mature miRNA region
PLA2G4F	Mature miRNA region
COL6A1	Mature miRNA region
WNK3	Mature miRNA region
BAK1	Mature miRNA region
DIP2A	Mature miRNA region
RPL12	Mature miRNA region
TRPV1	Mature miRNA region
COPG1	Mature miRNA region
TMEM127	Mature miRNA region
ENO1	Mature miRNA region
ACTR1B	Mature miRNA region
PEG10	Mature miRNA region
AGO2	Mature miRNA region
NDEL1	Mature miRNA region
TMEM101	Mature miRNA region
YOD1	Mature miRNA region
SPCS2	Mature miRNA region
ZBTB10	Mature miRNA region
COX10	Mature miRNA region
LUZP1	Mature miRNA region
BRCA1	Mature miRNA region
VPS13D	Mature miRNA region
LRRC41	Mature miRNA region
BAHCC1	Mature miRNA region
NME4	Mature miRNA region
CORO1C	Mature miRNA region
ZNF284	Mature miRNA region
VGLL4	Mature miRNA region
TCF4	Mature miRNA region
RNF213	Mature miRNA region
TFRC	Mature miRNA region
CNBP	Mature miRNA region
TOR1AIP2	Mature miRNA region
MAP3K1	Mature miRNA region
COPS6	Mature miRNA region
DLST	Mature miRNA region
LMLN	Mature miRNA region
TOR4A	Mature miRNA region
CRK	Mature miRNA region
ZKSCAN7	Mature miRNA region
C11orf91	Mature miRNA region
RBBP4	Mature miRNA region
ARHGAP19	Mature miRNA region
SYK	Mature miRNA region
HMGA2	Mature miRNA region
MT-ND5	Mature miRNA region
UGGT1	Mature miRNA region
NDUFB6	Mature miRNA region
KIF6	Mature miRNA region
MTMR14	Mature miRNA region
HNRNPC	Mature miRNA region
GNG5	Mature miRNA region
RAP1A	Mature miRNA region
VARS	Mature miRNA region
PACS2	Mature miRNA region
TRMT2A	Mature miRNA region
THADA	Mature miRNA region
KIAA0100	Mature miRNA region
SERF2	Mature miRNA region
RNMT	Mature miRNA region
CAMSAP3	Mature miRNA region
ATL2	Mature miRNA region
KIAA0232	Mature miRNA region
DTNB	Mature miRNA region
ZNF770	Mature miRNA region
MMP11	Mature miRNA region
LHFPL2	Mature miRNA region
SETD1A	Mature miRNA region
TP53	Mature miRNA region
UTP15	Mature miRNA region
CCDC106	Mature miRNA region
CELF2	Mature miRNA region
DUSP3	Mature miRNA region
RAI2	Mature miRNA region
IGF2BP1	Mature miRNA region
BSDC1	Mature miRNA region
SCYL1	Mature miRNA region
C17orf80	Mature miRNA region
AGO1	Mature miRNA region
UBE2H	Mature miRNA region
RBAK	Mature miRNA region
CD34	Mature miRNA region
ACTG1	Mature miRNA region
USP37	Mature miRNA region
NCBP1	Mature miRNA region
PANX1	Mature miRNA region
SEC23IP	Mature miRNA region
PPP5C	Mature miRNA region
NOLC1	Mature miRNA region
IRGQ	Mature miRNA region
SKIV2L	Mature miRNA region
DCAF8	Mature miRNA region
DAAM1	Mature miRNA region
RPS27	Mature miRNA region
IP6K2	Mature miRNA region
BTRC	Mature miRNA region
SUB1	Mature miRNA region
MT-CO1	Mature miRNA region
FBXO10	Mature miRNA region
AHSA1	Mature miRNA region
OSTM1	Mature miRNA region
HK2	Mature miRNA region
DYRK1A	Mature miRNA region
MT-ND4	Mature miRNA region
KATNAL1	Mature miRNA region
RRAGC	Mature miRNA region
SGSM3	Mature miRNA region
PSME4	Mature miRNA region
SKA2	Mature miRNA region
BAZ1B	Mature miRNA region
LMNA	Mature miRNA region
NTRK3	Mature miRNA region
RABL6	Mature miRNA region
ZMYND19	Mature miRNA region
CCL5	Mature miRNA region
SUGP2	Mature miRNA region
OCLN	Mature miRNA region
CNTNAP2	Mature miRNA region
TMEM107	Mature miRNA region
SMAP2	Mature miRNA region
HMGB1	Mature miRNA region
SLC1A5	Mature miRNA region
NCKIPSD	Mature miRNA region
MKI67	Mature miRNA region
CLTC	Mature miRNA region
SEPW1	Mature miRNA region
HK1	Mature miRNA region
CGNL1	Mature miRNA region
RMND5A	Mature miRNA region
RPL10	Mature miRNA region
ZNF236	Mature miRNA region
EIF4EBP1	Mature miRNA region
PIP4K2B	Mature miRNA region
DHX57	Mature miRNA region
NUDT15	Mature miRNA region
MTUS1	Mature miRNA region
CDKN1A	Mature miRNA region
OGT	Mature miRNA region
MCM3	Mature miRNA region
PRPF8	Mature miRNA region
VAMP2	Mature miRNA region
CCRN4L	Mature miRNA region
RCOR3	Mature miRNA region
TERF1	Mature miRNA region
EIF4EBP2	Mature miRNA region
PSMD2	Mature miRNA region
DIAPH1	Mature miRNA region
APPL1	Mature miRNA region
ZDHHC9	Mature miRNA region
PLS3	Mature miRNA region
MAP2K7	Mature miRNA region
ARFGEF1	Mature miRNA region
SQLE	Mature miRNA region
POLD1	Mature miRNA region
AMPD2	Mature miRNA region
RPN2	Mature miRNA region
AGMAT	Mature miRNA region
LIN28B	Mature miRNA region
SREBF1	Mature miRNA region
SPCS3	Mature miRNA region
TNFAIP3	Mature miRNA region
SRGAP2	Mature miRNA region
PPP2R5E	Mature miRNA region
DZIP1	Mature miRNA region
CHD7	Mature miRNA region
HNRNPUL1	Mature miRNA region
HLA-C	Mature miRNA region
EIF4A1	Mature miRNA region
RPL27A	Mature miRNA region
COPS8	Mature miRNA region
HOXA3	Mature miRNA region
CTC1	Mature miRNA region
TDRD7	Mature miRNA region
SPAG9	Mature miRNA region
NCLN	Mature miRNA region
MT-ND3	Mature miRNA region
RDX	Mature miRNA region
JAZF1	Mature miRNA region
COL4A1	Mature miRNA region
PLCXD1	Mature miRNA region
GLUL	Mature miRNA region
TBC1D1	Mature miRNA region
OTUB1	Mature miRNA region
CLDN4	Mature miRNA region
XPO1	Mature miRNA region
PGD	Mature miRNA region
FERMT1	Mature miRNA region
GPM6B	Mature miRNA region
MYO9B	Mature miRNA region
RANBP2	Mature miRNA region
PDCD11	Mature miRNA region
ANKRD40	Mature miRNA region
SPN	Mature miRNA region
SLFN11	Mature miRNA region
NUP62	Mature miRNA region
SRSF2	Mature miRNA region
PGM3	Mature miRNA region
STAT3	Mature miRNA region
RBM4	Mature miRNA region
ERBB2	Mature miRNA region
YES1	Mature miRNA region
DSP	Mature miRNA region
PPP1R2	Mature miRNA region
WDFY3	Mature miRNA region
ZFAND1	Mature miRNA region
ATXN1	Mature miRNA region
FAM171A2	Mature miRNA region
IRS4	Mature miRNA region
TBC1D31	Mature miRNA region
AGTRAP	Mature miRNA region
RPRD2	Mature miRNA region
SEMA4B	Mature miRNA region
PA2G4	Mature miRNA region
GMPS	Mature miRNA region
FOXD4L6	Mature miRNA region
OTUB2	Mature miRNA region
C19orf48	Mature miRNA region
GTF2I	Mature miRNA region
TXNRD1	Mature miRNA region
ALMS1	Mature miRNA region
PFAS	Mature miRNA region
YWHAQ	Mature miRNA region
EMID1	Mature miRNA region
MYCN	Mature miRNA region
SPATA13	Mature miRNA region
VEGFA	Mature miRNA region
ZNF451	Mature miRNA region
MS4A10	Mature miRNA region
PIGN	Mature miRNA region
NR1D2	Mature miRNA region
HIF1AN	Mature miRNA region
KATNB1	Mature miRNA region
NUDT8	Mature miRNA region
CDCA3	Mature miRNA region
DHFR	Mature miRNA region
ETV6	Mature miRNA region
PYCR1	Mature miRNA region
ATP6V1B2	Mature miRNA region
FAM219B	Mature miRNA region
RRP1B	Mature miRNA region
NF1	Mature miRNA region
SLCO4A1	Mature miRNA region
TIMP3	Mature miRNA region
PPP2R1A	Mature miRNA region
RPLP2	Mature miRNA region
UBE2V2	Mature miRNA region
ELAVL1	Mature miRNA region
KLF13	Mature miRNA region
PIGP	Mature miRNA region
THRAP3	Mature miRNA region
CLCN7	Mature miRNA region
ATP5G2	Mature miRNA region
RNF26	Mature miRNA region
YIPF4	Mature miRNA region
NNT	Mature miRNA region
PCDHGB2	Mature miRNA region
GTF3C1	Mature miRNA region
SLC2A11	Mature miRNA region
TPM4	Mature miRNA region
RPS10	Mature miRNA region
MRPL50	Mature miRNA region
PMPCA	Mature miRNA region
GGCT	Mature miRNA region
ATXN7L3	Mature miRNA region
OSBPL9	Mature miRNA region
LAMB1	Mature miRNA region
KIRREL	Mature miRNA region
QSOX1	Mature miRNA region
PREPL	Mature miRNA region
JMJD1C	Mature miRNA region
EIF3C	Mature miRNA region
EDF1	Mature miRNA region
RAVER2	Mature miRNA region
CHEK1	Mature miRNA region
PCBP2	Mature miRNA region
SMC1A	Mature miRNA region
ENO2	Mature miRNA region
RHBDD2	Mature miRNA region
SNX4	Mature miRNA region
HIST1H1C	Mature miRNA region
H2AFZ	Mature miRNA region
CDKAL1	Mature miRNA region
PC	Mature miRNA region
PES1	Mature miRNA region
PAPD4	Mature miRNA region
SCMH1	Mature miRNA region
CCDC113	Mature miRNA region
RSL1D1	Mature miRNA region
RBM17	Mature miRNA region
TTC8	Mature miRNA region
CENPP	Mature miRNA region
RBM14	Mature miRNA region
CABLES1	Mature miRNA region
DDX39A	Mature miRNA region
CASC4	Mature miRNA region
C12orf49	Mature miRNA region
MT-ND6	Mature miRNA region
NUP155	Mature miRNA region
PSD3	Mature miRNA region
MT-ND2	Mature miRNA region
MED13L	Mature miRNA region
CDH18	Mature miRNA region
ERBB3	Mature miRNA region
WNT1	Mature miRNA region
MT-ATP6	Mature miRNA region
UBN2	Mature miRNA region
XIAP	Mature miRNA region
TNPO2	Mature miRNA region
LYPLA1	Mature miRNA region
DYRK2	Mature miRNA region
NDST1	Mature miRNA region
NRSN2	Mature miRNA region
DGCR8	Mature miRNA region
HIST2H2BF	Mature miRNA region
IGF2BP3	Mature miRNA region
NIN	Mature miRNA region
NOP16	Mature miRNA region
ZNF256	Mature miRNA region
E2F7	Mature miRNA region
ZZEF1	Mature miRNA region
UNC45A	Mature miRNA region
PRC1	Mature miRNA region
NPM1	Mature miRNA region
CWC15	Mature miRNA region
CHD9	Mature miRNA region
EN2	Mature miRNA region
IGF1R	Mature miRNA region
E2F8	Mature miRNA region
RUNX1T1	Mature miRNA region
KIAA0355	Mature miRNA region
ALDH1B1	Mature miRNA region
SLC12A4	Mature miRNA region
SCD	Mature miRNA region
PDCL3	Mature miRNA region
CLDN12	Mature miRNA region
PDPK1	Mature miRNA region
CDC5L	Mature miRNA region
ZNF652	Mature miRNA region
USMG5	Mature miRNA region
TUBA1B	Mature miRNA region
EEF2	Mature miRNA region
EIF4A3	Mature miRNA region
PAX3	Mature miRNA region
EIF3J	Mature miRNA region
UROC1	Mature miRNA region
EEF1A1	Mature miRNA region
TIMM50	Mature miRNA region
OR7D2	Mature miRNA region
MPL	Mature miRNA region
PHKA1	Mature miRNA region
PRRC2A	Mature miRNA region
YWHAG	Mature miRNA region
STAM	Mature miRNA region
UBE2G2	Mature miRNA region
MAPK8	Mature miRNA region
IRS2	Mature miRNA region

Extended variants
information (count: 1393 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11670215	chr19:52187568-52187569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548205237	chr19:52187594-52187595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147787818	chr19:52187633-52187634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534455571	chr19:52187688-52187689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561907185	chr19:52187710-52187711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139500889	chr19:52187751-52187752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534733084	chr19:52187762-52187763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1868940	chr19:52187802-52187803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs190116471	chr19:52187838-52187839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557201207	chr19:52187860-52187861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370471438	chr19:52187867-52187868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543831095	chr19:52187950-52187951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193038151	chr19:52187964-52187965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145027438	chr19:52187970-52187971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541496103	chr19:52187971-52187972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1868941	chr19:52187983-52187984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147649961	chr19:52188032-52188033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546454392	chr19:52188044-52188045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551713783	chr19:52188085-52188086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563991490	chr19:52188103-52188104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184058944	chr19:52188105-52188106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548563943	chr19:52188106-52188107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143169167	chr19:52188129-52188130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151195710	chr19:52188206-52188207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140255783	chr19:52188208-52188209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571285601	chr19:52188226-52188227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538812500	chr19:52188278-52188279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556917007	chr19:52188283-52188284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568004423	chr19:52188296-52188297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10410246	chr19:52188302-52188303	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12459728	chr19:52188318-52188319	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554912026	chr19:52188336-52188337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543411247	chr19:52188368-52188369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs376641035	chr19:52188408-52188409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16982927	chr19:52188431-52188432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188352035	chr19:52188495-52188496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529338726	chr19:52188521-52188522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553408960	chr19:52188568-52188569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578060641	chr19:52188668-52188669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138315020	chr19:52188683-52188684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12984389	chr19:52188746-52188747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs559453414	chr19:52188766-52188767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532949461	chr19:52188906-52188907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116958232	chr19:52188939-52188940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561270413	chr19:52189054-52189055	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528058176	chr19:52189086-52189087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180871410	chr19:52189141-52189142	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551211414	chr19:52189145-52189146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142794057	chr19:52189148-52189149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12974855	chr19:52189152-52189153	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1966 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52184800-52189200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:52184800-52189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:52184800-52190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:52184800-52190800	Weak transcription	Right Atrium	heart
5	chr19:52185000-52189600	Weak transcription	NHEK	skin
6	chr19:52185000-52189800	Weak transcription	Brain Germinal Matrix	brain
7	chr19:52185200-52189400	Weak transcription	HSMMtube	muscle
8	chr19:52185200-52189800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:52185200-52190200	Weak transcription	Fetal Lung	lung
10	chr19:52185200-52190800	Weak transcription	Fetal Kidney	kidney
11	chr19:52185400-52190200	Weak transcription	Fetal Muscle Leg	muscle
12	chr19:52185400-52190800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:52186200-52189600	Weak transcription	Placenta	Placenta
14	chr19:52187200-52190400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr19:52187600-52191000	Weak transcription	Psoas Muscle	Psoas
16	chr19:52188200-52188400	ZNF genes & repeats	A549	lung
17	chr19:52188400-52189000	Weak transcription	A549	lung
18	chr19:52188800-52190200	Weak transcription	K562	blood
19	chr19:52189000-52189400	Strong transcription	A549	lung
20	chr19:52189000-52189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:52189200-52189400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:52189200-52190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:52189200-52190200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr19:52189200-52190400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:52189200-52190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:52189200-52190800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:52189200-52190800	Enhancers	NHDF-Ad	bronchial
28	chr19:52189200-52190800	Enhancers	Osteobl	bone
29	chr19:52189400-52189800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:52189400-52189800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:52189400-52189800	Transcr. at gene 5' and 3'	A549	lung
32	chr19:52189400-52189800	Enhancers	HSMMtube	muscle
33	chr19:52189400-52190000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:52189400-52190000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:52189400-52190600	Enhancers	HMEC	breast
36	chr19:52189400-52190600	Enhancers	NHLF	lung
37	chr19:52189400-52190800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:52189400-52190800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr19:52189400-52190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:52189400-52190800	Enhancers	HSMM	muscle
41	chr19:52189400-52191000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr19:52189600-52189800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:52189600-52189800	Enhancers	Esophagus	oesophagus
44	chr19:52189600-52189800	Enhancers	Placenta	Placenta
45	chr19:52189600-52189800	Enhancers	Left Ventricle	heart
46	chr19:52189600-52189800	Enhancers	Right Ventricle	heart
47	chr19:52189600-52189800	Enhancers	NH-A	brain
48	chr19:52189600-52189800	Enhancers	NHEK	skin
49	chr19:52189600-52190000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:52189600-52190600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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