Variant report

Variant	esv2757836
Chromosome Location	chr2:151457277-151844210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1874)
CpG islands
(count:1160)
Chromatin interactive
region (count:91)
LncRNA
region (count:66)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1874 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:151793632-151793868	HepG2	liver:	n/a	n/a
2	ATF1	chr2:151631888-151632078	K562	blood:	n/a	n/a
3	ATF1	chr2:151734966-151735152	K562	blood:	n/a	n/a
4	ATF1	chr2:151729141-151729143	K562	blood:	n/a	n/a
5	ATF2	chr2:151592340-151592772	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:151586032-151586347	GM12878	blood:	n/a	n/a
7	ATF2	chr2:151592154-151592663	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr2:151734845-151735112	K562	blood:	n/a	n/a
9	BACH1	chr2:151838479-151838684	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:151544392-151544451	K562	blood:	n/a	n/a
11	BACH1	chr2:151614351-151614428	K562	blood:	n/a	n/a
12	BACH1	chr2:151477352-151477489	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:151626690-151626694	K562	blood:	n/a	n/a
14	BACH1	chr2:151768470-151768826	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:151660220-151660843	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr2:151586040-151586417	GM12878	blood:	n/a	chr2:151586231-151586242
17	BATF	chr2:151586090-151586308	GM12878	blood:	n/a	chr2:151586231-151586242
18	BCL11A	chr2:151592387-151592740	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL11A	chr2:151725646-151725845	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL11A	chr2:151586038-151586395	GM12878	blood:	n/a	chr2:151586230-151586239
21	BCL3	chr2:151458021-151458661	A549	lung:	n/a	chr2:151458620-151458629
22	BHLHE40	chr2:151733399-151733404	K562	blood:	n/a	n/a
23	BHLHE40	chr2:151768205-151768407	A549	lung:	n/a	n/a
24	BHLHE40	chr2:151768222-151768762	HepG2	liver:	n/a	n/a
25	BRCA1	chr2:151467130-151467518	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr2:151592401-151592996	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr2:151619076-151619168	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr2:151734760-151735340	HCT-116	colon:	n/a	n/a
29	CBX3	chr2:151723010-151723332	K562	blood:	n/a	n/a
30	CCNT2	chr2:151589688-151589750	K562	blood:	n/a	n/a
31	CCNT2	chr2:151490564-151490664	K562	blood:	n/a	n/a
32	CCNT2	chr2:151554122-151554320	K562	blood:	n/a	n/a
33	CEBPB	chr2:151624811-151625277	HepG2	liver:	n/a	chr2:151624907-151624920 chr2:151625186-151625197 chr2:151625197-151625209
34	CEBPB	chr2:151503344-151503590	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:151529441-151529567	IMR90	lung:	n/a	chr2:151529526-151529537
36	CEBPB	chr2:151474751-151475070	Hela-S3	cervix:	n/a	chr2:151474888-151474905 chr2:151474876-151474893 chr2:151474889-151474902
37	CEBPB	chr2:151741689-151742024	K562	blood:	n/a	chr2:151741859-151741872 chr2:151741860-151741871
38	CEBPB	chr2:151682460-151682543	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:151459306-151459479	A549	lung:	n/a	chr2:151459423-151459434
40	CEBPB	chr2:151741692-151742063	IMR90	lung:	n/a	chr2:151741859-151741872 chr2:151741860-151741871
41	CEBPB	chr2:151477280-151477783	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr2:151547424-151547801	IMR90	lung:	n/a	chr2:151547607-151547618
43	CEBPB	chr2:151768237-151768873	A549	lung:	n/a	chr2:151768357-151768368 chr2:151768356-151768369 chr2:151768358-151768367 chr2:151768356-151768369 chr2:151768356-151768369 chr2:151768356-151768367 chr2:151768358-151768367 chr2:151768358-151768367 chr2:151768358-151768367
44	CEBPB	chr2:151741693-151742050	HepG2	liver:	n/a	chr2:151741859-151741872 chr2:151741860-151741871
45	CEBPB	chr2:151739254-151739575	HepG2	liver:	n/a	chr2:151739414-151739425
46	CEBPB	chr2:151739403-151739530	K562	blood:	n/a	chr2:151739414-151739425
47	CEBPB	chr2:151457943-151458610	A549	lung:	n/a	n/a
48	CEBPB	chr2:151665780-151665929	K562	blood:	n/a	n/a
49	CEBPB	chr2:151768168-151768881	A549	lung:	n/a	chr2:151768357-151768368 chr2:151768356-151768369 chr2:151768358-151768367 chr2:151768356-151768369 chr2:151768356-151768369 chr2:151768356-151768367 chr2:151768358-151768367 chr2:151768358-151768367 chr2:151768358-151768367
50	CEBPB	chr2:151638224-151638491	HepG2	liver:	n/a	chr2:151638374-151638385 chr2:151638376-151638387 chr2:151638374-151638387 chr2:151638469-151638481 chr2:151638374-151638387 chr2:151638371-151638388

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:151730502-151730552	HCPEpiC	choroid plexus:	n/a
2	chr2:151730502-151730552	HCPEpiC	choroid plexus:	n/a
3	chr2:151730502-151730552	SK-N-SH_RA	brain:	n/a
4	chr2:151504597-151504647	AoSMC	blood vessel:	n/a
5	chr2:151564111-151564161	AG09319	gingival:	n/a
6	chr2:151730502-151730552	HCF	heart:	n/a
7	chr2:151788471-151788521	HIPEpiC	eye:	n/a
8	chr2:151564111-151564161	SK-N-SH_RA	brain:	n/a
9	chr2:151703942-151703992	HIPEpiC	eye:	n/a
10	chr2:151520694-151520744	PFSK-1	brain:	n/a
11	chr2:151564111-151564161	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:151564111-151564161	HCF	heart:	n/a
13	chr2:151477988-151478038	AG04449	skin:	fetal
14	chr2:151477988-151478038	IMR90	lung:	fetal
15	chr2:151537993-151538043	GM06990	blood:	n/a
16	chr2:151788471-151788521	AG10803	skin:	n/a
17	chr2:151564111-151564161	LNCaP	prostate:	n/a
18	chr2:151572379-151572429	GM19239	blood:	n/a
19	chr2:151703942-151703992	HL-60	blood:	n/a
20	chr2:151716903-151716953	ECC-1	luminal epithelium:	n/a
21	chr2:151703942-151703992	Caco-2	colon:	n/a
22	chr2:151716903-151716953	ProgFib	skin:	n/a
23	chr2:151730811-151730861	Caco-2	colon:	n/a
24	chr2:151730502-151730552	HNPCEpiC	eye:	n/a
25	chr2:151768348-151768398	HEEpiC	esophagus:	n/a
26	chr2:151544796-151544846	GM12878	blood:	n/a
27	chr2:151534222-151534272	SKMC	muscle:	n/a
28	chr2:151730502-151730552	HRPEpiC	eye:	n/a
29	chr2:151703942-151703992	H1-hESC	embryonic stem cell:	embryo
30	chr2:151484439-151484489	ovcar-3	ovarian:	n/a
31	chr2:151659068-151659118	AG09309	skin:	n/a
32	chr2:151703942-151703992	MCF-7	breast:	n/a
33	chr2:151788471-151788521	MCF-7	breast:	n/a
34	chr2:151838548-151838598	HepG2	liver:	n/a
35	chr2:151572379-151572429	H1-hESC	embryonic stem cell:	embryo
36	chr2:151504597-151504647	ECC-1	luminal epithelium:	n/a
37	chr2:151484439-151484489	HAEpiC	amniotic membrane:	n/a
38	chr2:151659068-151659118	SK-N-SH_RA	brain:	n/a
39	chr2:151558015-151558065	NB4	blood:	n/a
40	chr2:151564111-151564161	HRE	kidney:	n/a
41	chr2:151469837-151469887	HIPEpiC	eye:	n/a
42	chr2:151703942-151703992	PFSK-1	brain:	n/a
43	chr2:151564111-151564161	Hepatocyte	liver:	n/a
44	chr2:151572379-151572429	K562	blood:	n/a
45	chr2:151477988-151478038	AG09319	gingival:	n/a
46	chr2:151544796-151544846	NH-A	brain:	n/a
47	chr2:151484439-151484489	ECC-1	luminal epithelium:	n/a
48	chr2:151838548-151838598	HUVEC	blood vessel:	n/a
49	chr2:151504597-151504647	Hepatocyte	liver:	n/a
50	chr2:151558015-151558065	HepG2	liver:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
2	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
3	chr18:11001924..11002437-chr2:151673182..151673730,2	MCF-7	breast:
4	chr2:151531823..151533562-chr2:151538525..151541034,2	K562	blood:
5	chr2:151768362..151769212-chr2:151907879..151908719,2	MCF-7	breast:
6	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
7	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
8	chr2:151446443..151448791-chr2:151456173..151458106,3	MCF-7	breast:
9	chr2:151512811..151515542-chr2:151521344..151525496,3	K562	blood:
10	chr2:151679943..151682282-chr2:151683627..151685819,2	K562	blood:
11	chr2:151343940..151344674-chr2:151466969..151467781,2	MCF-7	breast:
12	chr2:151518612..151521370-chr2:151528175..151529931,2	MCF-7	breast:
13	chr2:151470812..151473719-chr2:151475994..151479335,3	K562	blood:
14	chr2:151536028..151537983-chr2:151543267..151545566,2	MCF-7	breast:
15	chr2:151341609..151343494-chr2:151486299..151487887,2	MCF-7	breast:
16	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
17	chr2:151468907..151471781-chr2:151558771..151560648,2	K562	blood:
18	chr2:151471840..151473581-chr2:151481556..151483221,2	K562	blood:
19	chr2:151466968..151467825-chr2:151907836..151908382,2	MCF-7	breast:
20	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
21	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
22	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
23	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
24	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
25	chr2:151536028..151537983-chr2:151543267..151545566,2	MCF-7	breast:
26	chr2:151533248..151535265-chr2:151536631..151538715,2	MCF-7	breast:
27	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
28	chr2:151343448..151345424-chr2:151666040..151668021,2	MCF-7	breast:
29	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
30	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
31	chr2:151340761..151344289-chr2:151463016..151468103,7	MCF-7	breast:
32	chr2:151376610..151379421-chr2:151457834..151460059,2	MCF-7	breast:
33	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
34	chr2:151466148..151468883-chr2:151471106..151473302,2	MCF-7	breast:
35	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
36	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
37	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
38	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
39	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
40	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
41	chr2:151531823..151533562-chr2:151538525..151541034,2	K562	blood:
42	chr2:150453802..150454699-chr2:151467290..151467940,2	K562	blood:
43	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
44	chr2:151343756..151346168-chr2:151468956..151472072,3	MCF-7	breast:
45	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
46	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
47	chr2:151466148..151468883-chr2:151471106..151473302,2	MCF-7	breast:
48	chr2:151340436..151342820-chr2:151458354..151460937,2	MCF-7	breast:
49	chr2:151383148..151383912-chr2:151466904..151467549,2	MCF-7	breast:
50	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:

(count:66 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFAIP6-2	chr2:151485944-151486096	NONHSAT074938
2	lnc-TNFAIP6-2	chr2:151488783-151488910	XLOC_001707
3	lnc-TNFAIP6-2	chr2:151485581-151485635	XLOC_001707
4	lnc-TNFAIP6-2	chr2:151485379-151485635	NONHSAT074937
5	lnc-TNFAIP6-2	chr2:151491700-151491854	XLOC_001707
6	lnc-TNFAIP6-2	chr2:151485398-151485635	NONHSAT074938
7	lnc-RND3-2	chr2:151476503-151476581	XLOC_002356
8	lnc-TNFAIP6-2	chr2:151491149-151491484	NONHSAT074938
9	lnc-TNFAIP6-2	chr2:151485506-151485635	XLOC_001707
10	lnc-TNFAIP6-2	chr2:151485945-151486096	XLOC_001707
11	lnc-TNFAIP6-2	chr2:151486154-151486228	XLOC_001707
12	lnc-TNFAIP6-2	chr2:151491749-151491871	NR_110246
13	lnc-RND3-6	chr2:151567380-151567579	NONHSAT074945
14	lnc-TNFAIP6-2	chr2:151488781-151488910	XLOC_001707
15	lnc-AC023469.1.1-1	chr2:151812105-151812299	NONHSAT074946
16	lnc-TNFAIP6-2	chr2:151468895-151469022	XLOC_001707
17	lnc-TNFAIP6-2	chr2:151491150-151491324	NONHSAT074937
18	lnc-TNFAIP6-2	chr2:151491150-151491630	XLOC_001707
19	lnc-TNFAIP6-2	chr2:151491150-151491253	NR_110246
20	lnc-TNFAIP6-2	chr2:151488822-151488910	XLOC_001707
21	lnc-TNFAIP6-2	chr2:151488780-151488910	NONHSAT074938
22	lnc-TNFAIP6-2	chr2:151491150-151491253	XLOC_001707
23	lnc-TNFAIP6-2	chr2:151488781-151488910	XLOC_001707
24	lnc-TNFAIP6-2	chr2:151488781-151488910	XLOC_001707
25	lnc-TNFAIP6-2	chr2:151491150-151491483	NR_110245
26	lnc-TNFAIP6-2	chr2:151491150-151491253	XLOC_001707
27	lnc-TNFAIP6-2	chr2:151488822-151488910	NR_110245
28	lnc-TNFAIP6-2	chr2:151485399-151485635	XLOC_001707
29	lnc-AC023469.1.1-1	chr2:151812442-151812560	NONHSAT074946
30	lnc-TNFAIP6-2	chr2:151491749-151492179	XLOC_001707
31	lnc-TNFAIP6-2	chr2:151488781-151488910	NR_110247
32	lnc-TNFAIP6-2	chr2:151485411-151485635	NR_110246
33	lnc-TNFAIP6-2	chr2:151488781-151488910	XLOC_001707
34	lnc-TNFAIP6-2	chr2:151491700-151491862	XLOC_001707
35	lnc-TNFAIP6-2	chr2:151486153-151486228	NONHSAT074938
36	lnc-TNFAIP6-2	chr2:151491749-151492179	XLOC_001707
37	lnc-TNFAIP6-2	chr2:151488781-151488910	NR_110246
38	lnc-TNFAIP6-2	chr2:151488781-151488910	XLOC_001707
39	lnc-TNFAIP6-2	chr2:151491150-151491253	XLOC_001707
40	lnc-RND3-6	chr2:151565085-151565086	FPKM1_group_17405_transcript_1
41	lnc-TNFAIP6-2	chr2:151485399-151485635	XLOC_001707
42	lnc-TNFAIP6-2	chr2:151491150-151491253	XLOC_001707
43	lnc-TNFAIP6-2	chr2:151491150-151491253	XLOC_001707
44	lnc-TNFAIP6-2	chr2:151485411-151485635	NR_110247
45	lnc-TNFAIP6-2	chr2:151488822-151488910	XLOC_001707
46	lnc-TNFAIP6-2	chr2:151491150-151491253	NR_110247
47	lnc-TNFAIP6-2	chr2:151491752-151491871	NR_110247
48	lnc-TNFAIP6-2	chr2:151491150-151491484	XLOC_001707
49	lnc-TNFAIP6-2	chr2:151485411-151485635	NR_110244
50	lnc-TNFAIP6-2	chr2:151488781-151488910	NONHSAT074937

No data

Variant related genes	Relation type
ENSG00000232359	TF binding region
ENSG00000228064	TF binding region
ENSG00000224048	TF binding region
ENSG00000232359	CpG island
ENSG00000228064	CpG island
ENSG00000224048	CpG island
ENSG00000115963	chromatin interactions
ENSG00000232359	chromatin interactions
BAD	miRNA target sites
IL24	miRNA target sites
KLHL9	miRNA target sites
DUSP6	miRNA target sites
NR4A3	miRNA target sites
IL2	miRNA target sites
IL17RD	miRNA target sites
ELOVL5	miRNA target sites
MVK	miRNA target sites
ARID4B	miRNA target sites
IL6	miRNA target sites
MKRN1	miRNA target sites
TSC22D2	miRNA target sites
IL36RN	miRNA target sites
ITGB1	miRNA target sites
TUFT1	miRNA target sites
ZDHHC9	miRNA target sites

Extended variants
information (count: 13217 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:13217 , 50 per page) page: 1 2 3 4 5 6 7 ... 265

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576001894	chr2:151457282-151457283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370946994	chr2:151457432-151457433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565770225	chr2:151457513-151457514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544852174	chr2:151457525-151457526	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534987163	chr2:151457553-151457554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189771351	chr2:151457577-151457578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571862800	chr2:151457602-151457603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2340861	chr2:151457605-151457606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142317445	chr2:151457611-151457612	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144615773	chr2:151457664-151457665	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541988910	chr2:151457673-151457674	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368586256	chr2:151457697-151457698	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555377919	chr2:151457783-151457784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147887962	chr2:151457870-151457871	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192425672	chr2:151457882-151457883	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140875178	chr2:151457883-151457884	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533078963	chr2:151457953-151457954	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543600083	chr2:151457989-151457990	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578183042	chr2:151457990-151457991	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529330191	chr2:151458145-151458146	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549095410	chr2:151458163-151458164	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371559055	chr2:151458166-151458167	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184451603	chr2:151458189-151458190	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528453513	chr2:151458220-151458221	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373588024	chr2:151458232-151458233	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574950080	chr2:151458236-151458237	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551494524	chr2:151458239-151458240	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190556117	chr2:151458268-151458269	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537392789	chr2:151458304-151458305	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560539887	chr2:151458329-151458330	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150172445	chr2:151458339-151458340	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76043390	chr2:151458413-151458414	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs367739184	chr2:151458430-151458431	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536858004	chr2:151458520-151458521	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555465681	chr2:151458589-151458590	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572052947	chr2:151458639-151458640	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77692294	chr2:151458658-151458659	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557515229	chr2:151458662-151458663	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181907253	chr2:151458666-151458667	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543346161	chr2:151458711-151458712	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563119449	chr2:151458741-151458742	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186085314	chr2:151458755-151458756	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542430545	chr2:151458812-151458813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189031977	chr2:151458850-151458851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559382246	chr2:151458851-151458852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376694412	chr2:151458866-151458867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149542286	chr2:151458867-151458868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs80336301	chr2:151458886-151458887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181420154	chr2:151458908-151458909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567071992	chr2:151458909-151458910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2027 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151449000-151457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:151452600-151457800	Weak transcription	Aorta	Aorta
3	chr2:151453600-151457400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:151453600-151457400	Weak transcription	HSMM	muscle
5	chr2:151453800-151457800	Weak transcription	NH-A	brain
6	chr2:151454800-151458000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:151454800-151458000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:151455400-151457400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:151455400-151457400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:151455400-151457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:151455400-151458200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:151456000-151457800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:151456000-151458200	Enhancers	NHDF-Ad	bronchial
14	chr2:151456600-151457400	Enhancers	A549	lung
15	chr2:151456600-151457800	Enhancers	Osteobl	bone
16	chr2:151456800-151457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:151456800-151458600	Enhancers	NHLF	lung
18	chr2:151457000-151458200	Enhancers	HSMMtube	muscle
19	chr2:151457200-151458000	Enhancers	Liver	Liver
20	chr2:151457200-151458400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:151457400-151457800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:151457400-151458000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:151457400-151458400	Enhancers	Adipose Nuclei	Adipose
24	chr2:151457400-151458600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:151457400-151458600	Enhancers	HSMM	muscle
26	chr2:151457400-151458800	Flanking Active TSS	A549	lung
27	chr2:151457600-151457800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:151457600-151458600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:151457800-151458000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:151457800-151458000	Enhancers	Aorta	Aorta
31	chr2:151457800-151458000	Enhancers	Colon Smooth Muscle	Colon
32	chr2:151457800-151458000	Enhancers	HMEC	breast
33	chr2:151457800-151458000	Enhancers	NH-A	brain
34	chr2:151457800-151458200	Enhancers	Ovary	ovary
35	chr2:151457800-151458200	Flanking Active TSS	Osteobl	bone
36	chr2:151457800-151458400	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:151457800-151458600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:151457800-151458600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:151457800-151458600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:151457800-151458600	Enhancers	Hela-S3	cervix
41	chr2:151457800-151458600	Enhancers	HepG2	liver
42	chr2:151458000-151458200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:151458000-151458200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:151458000-151458400	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr2:151458000-151458400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:151458000-151458400	Enhancers	Fetal Intestine Large	intestine
47	chr2:151458000-151458400	Enhancers	Small Intestine	intestine
48	chr2:151458000-151458600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:151458000-151458600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:151458000-151458600	Active TSS	Aorta	Aorta

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