Variant report

Variant	esv3375136
Chromosome Location	chr15:82336922-82339870
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	chr15:82339572-82339710	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:82339161-82339745	K562	blood:	n/a	n/a
3	ARID3A	chr15:82339043-82339318	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:82338579-82338869	K562	blood:	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	chr15:82339336-82339876	A549	lung:	n/a	chr15:82339805-82339814 chr15:82339367-82339376
8	ATF3	chr15:82339030-82339888	A549	lung:	n/a	chr15:82339323-82339332 chr15:82339805-82339814 chr15:82339367-82339376 chr15:82339208-82339228
9	ATF3	chr15:82339191-82339476	K562	blood:	n/a	chr15:82339323-82339332 chr15:82339367-82339376 chr15:82339208-82339228
10	BACH1	chr15:82336936-82337862	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr15:82338451-82340568	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr15:82338073-82338247	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr15:82338163-82338255	K562	blood:	n/a	n/a
14	BACH1	chr15:82339011-82339103	K562	blood:	n/a	n/a
15	BCL3	chr15:82338525-82339914	A549	lung:	n/a	chr15:82339727-82339736 chr15:82338619-82338632 chr15:82339358-82339371 chr15:82339412-82339425
16	BHLHE40	chr15:82338890-82339385	A549	lung:	n/a	chr15:82339221-82339237 chr15:82339357-82339373
17	BHLHE40	chr15:82337416-82340017	K562	blood:	n/a	chr15:82338216-82338232 chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373 chr15:82338533-82338549
18	BHLHE40	chr15:82338447-82339702	GM12878	blood:	n/a	chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373 chr15:82338533-82338549
19	BHLHE40	chr15:82338895-82339764	HepG2	liver:	n/a	chr15:82339221-82339237 chr15:82339681-82339697 chr15:82339357-82339373
20	BHLHE40	chr15:82337931-82338336	HepG2	liver:	n/a	chr15:82338216-82338232
21	BRCA1	chr15:82338534-82338633	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr15:82338835-82338840	GM12878	blood:	n/a	n/a
23	BRCA1	chr15:82337248-82337619	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr15:82339541-82340046	H1-hESC	embryonic stem cell:	n/a	n/a
25	CBX3	chr15:82339425-82339813	K562	blood:	n/a	n/a
26	CBX3	chr15:82338389-82339213	K562	blood:	n/a	n/a
27	CCNT2	chr15:82336991-82337297	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	CEBPB	chr15:82339423-82339753	IMR90	lung:	n/a	n/a
30	CEBPB	chr15:82339464-82339758	A549	lung:	n/a	n/a
31	CEBPB	chr15:82338547-82338550	K562	blood:	n/a	n/a
32	CEBPB	chr15:82337898-82338709	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr15:82338991-82339734	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr15:82339495-82339732	HepG2	liver:	n/a	n/a
35	CEBPB	chr15:82339445-82339670	K562	blood:	n/a	n/a
36	CEBPB	chr15:82339460-82339712	K562	blood:	n/a	n/a
37	CEBPB	chr15:82339483-82339718	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPD	chr15:82339333-82339544	HepG2	liver:	n/a	n/a
39	CHD1	chr15:82336258-82340453	IMR90	lung:	n/a	chr15:82338136-82338146 chr15:82339436-82339446 chr15:82338609-82338619 chr15:82340172-82340179 chr15:82339681-82339691
40	CHD1	chr15:82337180-82337181	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr15:82339209-82339269	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr15:82337387-82337797	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr15:82339695-82340223	H1-hESC	embryonic stem cell:	n/a	chr15:82340172-82340179
44	CHD2	chr15:82337180-82337368	K562	blood:	n/a	n/a
45	CHD2	chr15:82339482-82340211	H1-hESC	embryonic stem cell:	n/a	chr15:82340172-82340179 chr15:82339681-82339691
46	CHD2	chr15:82338029-82339885	K562	blood:	n/a	chr15:82338136-82338146 chr15:82339436-82339446 chr15:82338609-82338619 chr15:82339681-82339691
47	CHD2	chr15:82339457-82339723	HepG2	liver:	n/a	chr15:82339681-82339691
48	CHD2	chr15:82336795-82336985	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr15:82339370-82339731	GM12878	blood:	n/a	chr15:82339436-82339446 chr15:82339681-82339691
50	CHD2	chr15:82338607-82338893	HepG2	liver:	n/a	chr15:82338609-82338619

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82339161-82339211	NHBE	bronchial:	n/a
2	chr15:82339161-82339211	NHBE	bronchial:	n/a
3	chr15:82337218-82337268	HEEpiC	esophagus:	n/a
4	chr15:82339161-82339211	U87	brain:	n/a
5	chr15:82338593-82338643	HPAEpiC	pulmonary alveolar:	n/a
6	chr15:82339161-82339211	GM12891	blood:	n/a
7	chr15:82338527-82338577	HCF	heart:	n/a
8	chr15:82338527-82338577	GM19239	blood:	n/a
9	chr15:82337218-82337268	A549	lung:	n/a
10	chr15:82337218-82337268	Jurkat	blood:	n/a
11	chr15:82338380-82338430	HepG2	liver:	n/a
12	chr15:82337202-82337252	LNCaP	prostate:	n/a
13	chr15:82338586-82338636	PANC-1	pancreas:	n/a
14	chr15:82338593-82338643	HUVEC	blood vessel:	n/a
15	chr15:82338586-82338636	HAEpiC	amniotic membrane:	n/a
16	chr15:82338403-82338453	GM12878	blood:	n/a
17	chr15:82338222-82338272	AG04449	skin:	fetal
18	chr15:82337202-82337252	A549	lung:	n/a
19	chr15:82337812-82337862	SK-N-MC	brain:	n/a
20	chr15:82338222-82338272	HEK293	kidney:	embryo
21	chr15:82338380-82338430	AG09309	skin:	n/a
22	chr15:82338574-82338624	CMK	blood:	n/a
23	chr15:82338574-82338624	HCF	heart:	n/a
24	chr15:82338586-82338636	Jurkat	blood:	n/a
25	chr15:82339161-82339211	LNCaP	prostate:	n/a
26	chr15:82338586-82338636	NHDF-neo	bronchial:	n/a
27	chr15:82338574-82338624	SK-N-SH_RA	brain:	n/a
28	chr15:82338222-82338272	HL-60	blood:	n/a
29	chr15:82337812-82337862	HNPCEpiC	eye:	n/a
30	chr15:82338527-82338577	HEEpiC	esophagus:	n/a
31	chr15:82337218-82337268	SK-N-SH_RA	brain:	n/a
32	chr15:82337202-82337252	Hepatocyte	liver:	n/a
33	chr15:82337218-82337268	AG09319	gingival:	n/a
34	chr15:82338380-82338430	ProgFib	skin:	n/a
35	chr15:82338593-82338643	HCM	heart:	n/a
36	chr15:82339161-82339211	HUVEC	blood vessel:	n/a
37	chr15:82338574-82338624	NHDF-neo	bronchial:	n/a
38	chr15:82339233-82339283	MCF-7	breast:	n/a
39	chr15:82339233-82339283	Jurkat	blood:	n/a
40	chr15:82338222-82338272	BE2_C	brain:	n/a
41	chr15:82338586-82338636	U87	brain:	n/a
42	chr15:82338380-82338430	SK-N-SH	brain:	n/a
43	chr15:82338222-82338272	T-47D	breast:	n/a
44	chr15:82338518-82338568	Caco-2	colon:	n/a
45	chr15:82338593-82338643	NH-A	brain:	n/a
46	chr15:82338518-82338568	GM12891	blood:	n/a
47	chr15:82338403-82338453	AG09319	gingival:	n/a
48	chr15:82337218-82337268	AG04450	lung:	fetal
49	chr15:82339233-82339283	HCT-116	colon:	n/a
50	chr15:82337202-82337252	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:82019963..82021794-chr15:82338805..82341012,2	K562	blood:
2	chr11:64877977..64880621-chr15:82337934..82340842,2	MCF-7	breast:
3	chr15:81772991..81773519-chr15:82338830..82339760,2	MCF-7	breast:
4	chr15:82161807..82163789-chr15:82338428..82340595,2	K562	blood:
5	chr11:64901648..64902635-chr15:82338161..82338689,2	MCF-7	breast:
6	chr15:81772616..81773466-chr15:82339216..82340113,4	K562	blood:
7	chr15:82338000..82338797-chr7:158621966..158622832,2	NB4	blood:
8	chr15:82303791..82305649-chr15:82338630..82341531,2	MCF-7	breast:
9	chr15:82338599..82339538-chr17:41393027..41393678,2	Hela-S3	cervix:
10	chr15:82313172..82315891-chr15:82338607..82340341,2	MCF-7	breast:
11	chr15:82194966..82197509-chr15:82338812..82340977,2	K562	blood:
12	chr15:82338618..82340658-chr15:82358570..82360235,2	MCF-7	breast:
13	chr15:82088472..82091258-chr15:82337610..82339890,2	MCF-7	breast:
14	chr15:82105277..82106187-chr15:82339200..82340118,4	MCF-7	breast:
15	chr15:82338516..82340987-chr15:82386144..82387942,2	MCF-7	breast:

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

Extended variants
information (count: 109 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186238341	chr15:82336957-82336958	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373427350	chr15:82336971-82336972	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139503850	chr15:82336982-82336983	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559805893	chr15:82336986-82336987	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189552531	chr15:82336991-82336992	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374071465	chr15:82336993-82336994	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs377207735	chr15:82336995-82336996	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533723018	chr15:82337025-82337026	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528238637	chr15:82337032-82337033	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547988041	chr15:82337035-82337036	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs545375509	chr15:82337044-82337045	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568111085	chr15:82337056-82337057	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs34396505	chr15:82337098-82337099	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537063375	chr15:82337169-82337170	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs563768890	chr15:82337193-82337194	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550570448	chr15:82337219-82337220	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs561925687	chr15:82337231-82337232	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs540126055	chr15:82337251-82337252	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs553576630	chr15:82337263-82337264	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs573361296	chr15:82337305-82337306	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs536004944	chr15:82337328-82337329	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs555595142	chr15:82337332-82337333	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs531193800	chr15:82337347-82337348	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs575666773	chr15:82337367-82337368	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs544229421	chr15:82337381-82337382	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs564127034	chr15:82337389-82337390	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs149677141	chr15:82337392-82337393	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs545690874	chr15:82337401-82337402	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559557074	chr15:82337416-82337417	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371250287	chr15:82337437-82337438	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549483318	chr15:82337442-82337443	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567790887	chr15:82337455-82337456	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529295074	chr15:82337460-82337461	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528288949	chr15:82337473-82337474	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529054496	chr15:82337478-82337479	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561656220	chr15:82337506-82337507	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547526785	chr15:82337510-82337511	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530605900	chr15:82337553-82337554	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376952179	chr15:82337566-82337567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114188987	chr15:82337623-82337624	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550636240	chr15:82337628-82337629	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570458649	chr15:82337665-82337666	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532909892	chr15:82337709-82337710	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546988218	chr15:82337713-82337714	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369809885	chr15:82337717-82337718	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370397485	chr15:82337740-82337741	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535692492	chr15:82337742-82337743	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375213012	chr15:82337751-82337752	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201386423	chr15:82337766-82337767	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569047344	chr15:82337795-82337796	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82334800-82337000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:82334800-82337400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr15:82335000-82340600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:82335200-82337000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:82335200-82337000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
6	chr15:82335200-82338000	Active TSS	Fetal Brain Male	brain
7	chr15:82335400-82337000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:82335400-82337400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr15:82335400-82340400	Active TSS	HSMMtube	muscle
10	chr15:82335400-82340600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr15:82335400-82341200	Active TSS	Fetal Kidney	kidney
12	chr15:82335600-82338000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr15:82335600-82338200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:82335600-82340600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:82335800-82340400	Active TSS	Colon Smooth Muscle	Colon
16	chr15:82336200-82337000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr15:82336200-82337200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:82336200-82337400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:82336200-82337400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr15:82336200-82337600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr15:82336200-82337600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:82336200-82338000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
23	chr15:82336200-82339800	Active TSS	Osteobl	bone
24	chr15:82336200-82340000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr15:82336200-82340200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:82336200-82340200	Active TSS	NHLF	lung
27	chr15:82336200-82340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:82336200-82340400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:82336200-82340400	Active TSS	HSMM	muscle
30	chr15:82336400-82337000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr15:82336400-82337000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:82336400-82337000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:82336400-82337000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr15:82336400-82337000	Flanking Active TSS	HUVEC	blood vessel
35	chr15:82336400-82337200	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr15:82336400-82337200	Flanking Active TSS	HMEC	breast
37	chr15:82336400-82337200	ZNF genes & repeats	K562	blood
38	chr15:82336400-82337400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr15:82336400-82337400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr15:82336400-82337400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr15:82336400-82337400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr15:82336400-82337600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr15:82336400-82337600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr15:82336400-82337600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr15:82336400-82337600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr15:82336400-82337800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr15:82336400-82337800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr15:82336400-82338000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:82336400-82338000	Flanking Active TSS	Placenta	Placenta
50	chr15:82336400-82338200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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