Variant report

Variant	esv3344827
Chromosome Location	chr15:82334647-82340995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:82338579-82338869	K562	blood:	n/a	n/a
2	ARID3A	chr15:82339572-82339710	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:82339161-82339745	K562	blood:	n/a	n/a
4	ARID3A	chr15:82339043-82339318	HepG2	liver:	n/a	n/a
5	ATF1	chr15:82338369-82338967	K562	blood:	n/a	n/a
6	ATF2	chr15:82337305-82337747	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr15:82339191-82339476	K562	blood:	n/a	chr15:82339323-82339332 chr15:82339367-82339376 chr15:82339208-82339228
8	ATF3	chr15:82339030-82339888	A549	lung:	n/a	chr15:82339323-82339332 chr15:82339805-82339814 chr15:82339367-82339376 chr15:82339208-82339228
9	ATF3	chr15:82339336-82339876	A549	lung:	n/a	chr15:82339805-82339814 chr15:82339367-82339376
10	BACH1	chr15:82339011-82339103	K562	blood:	n/a	n/a
11	BACH1	chr15:82338163-82338255	K562	blood:	n/a	n/a
12	BACH1	chr15:82338451-82340568	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr15:82336936-82337862	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr15:82338073-82338247	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr15:82335425-82335595	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL3	chr15:82338525-82339914	A549	lung:	n/a	chr15:82339727-82339736 chr15:82338619-82338632 chr15:82339358-82339371 chr15:82339412-82339425
17	BHLHE40	chr15:82338895-82339764	HepG2	liver:	n/a	chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373
18	BHLHE40	chr15:82337416-82340017	K562	blood:	n/a	chr15:82338216-82338232 chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373 chr15:82338533-82338549
19	BHLHE40	chr15:82338447-82339702	GM12878	blood:	n/a	chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373 chr15:82338533-82338549
20	BHLHE40	chr15:82338890-82339385	A549	lung:	n/a	chr15:82339221-82339237 chr15:82339357-82339373
21	BHLHE40	chr15:82337931-82338336	HepG2	liver:	n/a	chr15:82338216-82338232
22	BRCA1	chr15:82337248-82337619	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr15:82339541-82340046	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr15:82338534-82338633	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr15:82338835-82338840	GM12878	blood:	n/a	n/a
26	CBX3	chr15:82338389-82339213	K562	blood:	n/a	n/a
27	CBX3	chr15:82339425-82339813	K562	blood:	n/a	n/a
28	CCNT2	chr15:82337631-82340050	K562	blood:	n/a	chr15:82338135-82338144 chr15:82338278-82338287 chr15:82338254-82338263
29	CCNT2	chr15:82335694-82336332	K562	blood:	n/a	n/a
30	CCNT2	chr15:82336991-82337297	K562	blood:	n/a	n/a
31	CEBPB	chr15:82339495-82339732	HepG2	liver:	n/a	n/a
32	CEBPB	chr15:82338991-82339734	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr15:82339423-82339753	IMR90	lung:	n/a	n/a
34	CEBPB	chr15:82339483-82339718	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr15:82339464-82339758	A549	lung:	n/a	n/a
36	CEBPB	chr15:82338547-82338550	K562	blood:	n/a	n/a
37	CEBPB	chr15:82339460-82339712	K562	blood:	n/a	n/a
38	CEBPB	chr15:82337898-82338709	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr15:82339445-82339670	K562	blood:	n/a	n/a
40	CEBPD	chr15:82339333-82339544	HepG2	liver:	n/a	n/a
41	CHD1	chr15:82336258-82340453	IMR90	lung:	n/a	chr15:82338136-82338146 chr15:82339436-82339446 chr15:82338609-82338619 chr15:82340172-82340179 chr15:82339681-82339691
42	CHD1	chr15:82337387-82337797	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr15:82339209-82339269	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr15:82339695-82340223	H1-hESC	embryonic stem cell:	n/a	chr15:82340172-82340179
45	CHD1	chr15:82337180-82337181	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr15:82336789-82337683	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr15:82338029-82339885	K562	blood:	n/a	chr15:82338136-82338146 chr15:82339436-82339446 chr15:82338609-82338619 chr15:82339681-82339691
48	CHD2	chr15:82338438-82339070	GM12878	blood:	n/a	chr15:82338609-82338619
49	CHD2	chr15:82339457-82339723	HepG2	liver:	n/a	chr15:82339681-82339691
50	CHD2	chr15:82337467-82339768	Hela-S3	cervix:	n/a	chr15:82338136-82338146 chr15:82339436-82339446 chr15:82338609-82338619 chr15:82339681-82339691

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82339920-82339970	AoSMC	blood vessel:	n/a
2	chr15:82335638-82335688	GM12891	blood:	n/a
3	chr15:82339984-82340034	SK-N-SH_RA	brain:	n/a
4	chr15:82338222-82338272	ECC-1	luminal epithelium:	n/a
5	chr15:82337218-82337268	HEEpiC	esophagus:	n/a
6	chr15:82339920-82339970	AoSMC	blood vessel:	n/a
7	chr15:82335638-82335688	GM12891	blood:	n/a
8	chr15:82339984-82340034	SK-N-SH_RA	brain:	n/a
9	chr15:82338222-82338272	ECC-1	luminal epithelium:	n/a
10	chr15:82337218-82337268	HEEpiC	esophagus:	n/a
11	chr15:82338222-82338272	HEK293	kidney:	embryo
12	chr15:82337812-82337862	HIPEpiC	eye:	n/a
13	chr15:82338518-82338568	ECC-1	luminal epithelium:	n/a
14	chr15:82337202-82337252	HPAEpiC	pulmonary alveolar:	n/a
15	chr15:82335638-82335688	SK-N-SH_RA	brain:	n/a
16	chr15:82337812-82337862	SKMC	muscle:	n/a
17	chr15:82337218-82337268	SK-N-MC	brain:	n/a
18	chr15:82338586-82338636	IMR90	lung:	fetal
19	chr15:82338222-82338272	NT2-D1	testis:	n/a
20	chr15:82340505-82340555	HAEpiC	amniotic membrane:	n/a
21	chr15:82340505-82340555	ovcar-3	ovarian:	n/a
22	chr15:82340023-82340073	ECC-1	luminal epithelium:	n/a
23	chr15:82335947-82335997	BJ	skin:	n/a
24	chr15:82338574-82338624	HCT-116	colon:	n/a
25	chr15:82338380-82338430	HEEpiC	esophagus:	n/a
26	chr15:82340505-82340555	GM19239	blood:	n/a
27	chr15:82339920-82339970	PANC-1	pancreas:	n/a
28	chr15:82336109-82336159	HCM	heart:	n/a
29	chr15:82334984-82335034	HRCEpiC	kidney:	n/a
30	chr15:82338380-82338430	GM12892	blood:	n/a
31	chr15:82338222-82338272	GM12878	blood:	n/a
32	chr15:82338403-82338453	HCM	heart:	n/a
33	chr15:82339920-82339970	SKMC	muscle:	n/a
34	chr15:82339161-82339211	GM12892	blood:	n/a
35	chr15:82338574-82338624	NH-A	brain:	n/a
36	chr15:82339984-82340034	Jurkat	blood:	n/a
37	chr15:82338518-82338568	HCM	heart:	n/a
38	chr15:82340327-82340377	HL-60	blood:	n/a
39	chr15:82339984-82340034	ovcar-3	ovarian:	n/a
40	chr15:82337202-82337252	ECC-1	luminal epithelium:	n/a
41	chr15:82340571-82340621	GM19239	blood:	n/a
42	chr15:82336202-82336252	T-47D	breast:	n/a
43	chr15:82336761-82336811	AG10803	skin:	n/a
44	chr15:82335638-82335688	GM12878	blood:	n/a
45	chr15:82340505-82340555	Hela-S3	cervix:	n/a
46	chr15:82336109-82336159	GM19239	blood:	n/a
47	chr15:82334984-82335034	HCT-116	colon:	n/a
48	chr15:82340571-82340621	LNCaP	prostate:	n/a
49	chr15:82340023-82340073	MCF-7	breast:	n/a
50	chr15:82338574-82338624	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:82105277..82106187-chr15:82339200..82340118,4	MCF-7	breast:
2	chr15:82161807..82163789-chr15:82338428..82340595,2	K562	blood:
3	chr15:82338599..82339538-chr17:41393027..41393678,2	Hela-S3	cervix:
4	chr15:82303791..82305649-chr15:82338630..82341531,2	MCF-7	breast:
5	chr15:82194966..82197509-chr15:82338812..82340977,2	K562	blood:
6	chr15:82338516..82340987-chr15:82386144..82387942,2	MCF-7	breast:
7	chr15:82088472..82091258-chr15:82337610..82339890,2	MCF-7	breast:
8	chr15:82340625..82342425-chr15:82347816..82349343,2	K562	blood:
9	chr15:82251555..82253292-chr15:82333224..82334972,2	MCF-7	breast:
10	chr15:82332579..82335110-chr15:82342435..82344275,2	K562	blood:
11	chr11:64901648..64902635-chr15:82338161..82338689,2	MCF-7	breast:
12	chr15:82333605..82336369-chr15:82346217..82348896,2	MCF-7	breast:
13	chr15:82338618..82340658-chr15:82358570..82360235,2	MCF-7	breast:
14	chr15:81772616..81773466-chr15:82339216..82340113,4	K562	blood:
15	chr15:82313172..82315891-chr15:82338607..82340341,2	MCF-7	breast:
16	chr15:82299760..82303058-chr15:82332264..82335755,3	K562	blood:
17	chr15:82330594..82336594-chr15:82336813..82340577,9	K562	blood:
18	chr15:82338000..82338797-chr7:158621966..158622832,2	NB4	blood:
19	chr15:82340771..82341539-chr4:146100295..146100867,2	NB4	blood:
20	chr15:82019963..82021794-chr15:82338805..82341012,2	K562	blood:
21	chr15:81772991..81773519-chr15:82338830..82339760,2	MCF-7	breast:
22	chr11:64877977..64880621-chr15:82337934..82340842,2	MCF-7	breast:
23	chr15:82095888..82097859-chr15:82332803..82335499,2	K562	blood:
24	chr15:82333925..82335787-chr15:82348964..82351774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222521	TF binding region
MEX3B	TF binding region
ENSG00000222521	CpG island
MEX3B	CpG island
ENSG00000162298	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000183496	chromatin interactions
ENSG00000259622	chromatin interactions
ENSG00000164164	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000259692	chromatin interactions
ENSG00000117868	chromatin interactions

Extended variants
information (count: 279 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561376472	chr15:82334650-82334651	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs371568442	chr15:82334771-82334772	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530325987	chr15:82334788-82334789	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139663241	chr15:82334829-82334830	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs563797399	chr15:82334875-82334876	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532632543	chr15:82334878-82334879	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs567951753	chr15:82334927-82334928	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs566075022	chr15:82334953-82334954	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs142471581	chr15:82335009-82335010	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs535241205	chr15:82335030-82335031	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs187824971	chr15:82335069-82335070	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs553800007	chr15:82335084-82335085	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs567413437	chr15:82335094-82335095	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536467770	chr15:82335103-82335104	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs556455781	chr15:82335125-82335126	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs556062014	chr15:82335136-82335137	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs192995917	chr15:82335145-82335146	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs113690500	chr15:82335168-82335169	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538338874	chr15:82335215-82335216	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs185165233	chr15:82335229-82335230	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs539457859	chr15:82335254-82335255	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs189056326	chr15:82335294-82335295	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs540630068	chr15:82335332-82335333	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555262682	chr15:82335353-82335354	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs575006425	chr15:82335383-82335384	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs544025189	chr15:82335390-82335391	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs563857983	chr15:82335393-82335394	Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs532698928	chr15:82335400-82335401	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs192443126	chr15:82335402-82335403	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs559841962	chr15:82335424-82335425	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs11073028	chr15:82335444-82335445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs548260643	chr15:82335446-82335447	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574614136	chr15:82335449-82335450	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs567578870	chr15:82335451-82335452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529929492	chr15:82335474-82335475	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs375516050	chr15:82335479-82335480	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs367866145	chr15:82335489-82335490	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs370349501	chr15:82335490-82335491	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs143849049	chr15:82335532-82335533	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549604116	chr15:82335560-82335561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs369404626	chr15:82335562-82335563	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs373048829	chr15:82335580-82335581	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs146864462	chr15:82335638-82335639	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376291077	chr15:82335669-82335670	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs140723359	chr15:82335673-82335674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs370005371	chr15:82335679-82335680	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs143638351	chr15:82335690-82335691	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs199726400	chr15:82335694-82335695	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs375172933	chr15:82335711-82335712	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs569512554	chr15:82335729-82335730	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82327400-82335000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr15:82331400-82335200	Weak transcription	Thymus	Thymus
3	chr15:82332000-82335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:82332000-82335400	Weak transcription	Spleen	Spleen
5	chr15:82332200-82334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:82332200-82335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:82332400-82335400	Weak transcription	HUVEC	blood vessel
8	chr15:82332800-82335000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:82333000-82335400	Weak transcription	Right Ventricle	heart
10	chr15:82333000-82335400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr15:82333200-82335000	Weak transcription	Fetal Lung	lung
12	chr15:82333200-82335200	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:82333400-82334800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:82333400-82335000	Weak transcription	Fetal Heart	heart
15	chr15:82333400-82335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:82333400-82335400	Weak transcription	Ovary	ovary
17	chr15:82333400-82335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:82333400-82335600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:82333400-82336000	Weak transcription	Osteobl	bone
20	chr15:82333600-82335000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:82333600-82335000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:82333600-82335000	Weak transcription	Fetal Thymus	thymus
23	chr15:82333600-82335200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:82333600-82335200	Weak transcription	Fetal Stomach	stomach
25	chr15:82333600-82335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:82333600-82335400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:82333600-82335400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:82333600-82335400	Weak transcription	Gastric	stomach
29	chr15:82333600-82335400	Weak transcription	Left Ventricle	heart
30	chr15:82333600-82335400	Weak transcription	Pancreas	Pancrea
31	chr15:82333600-82335400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:82333600-82335600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:82333600-82335600	Weak transcription	Brain Anterior Caudate	brain
34	chr15:82333600-82336400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr15:82333600-82336400	Weak transcription	Right Atrium	heart
36	chr15:82333600-82336600	Weak transcription	Psoas Muscle	Psoas
37	chr15:82333600-82336600	Weak transcription	A549	lung
38	chr15:82333800-82335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:82333800-82335200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:82333800-82335200	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:82333800-82335200	Strong transcription	NH-A	brain
42	chr15:82333800-82335400	Weak transcription	Dnd41	blood
43	chr15:82333800-82335400	Strong transcription	HSMM	muscle
44	chr15:82334000-82335000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:82334000-82335000	Weak transcription	K562	blood
46	chr15:82334000-82336000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:82334200-82334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr15:82334200-82334800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:82334200-82335400	Weak transcription	NHLF	lung
50	chr15:82334200-82336400	Weak transcription	NHDF-Ad	bronchial

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