Variant report

Variant	esv3415080
Chromosome Location	chr15:38855685-38858233
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	ATF2	chr15:38856880-38857216	GM12878	blood:	n/a	n/a
2	ATF2	chr15:38856191-38856604	GM12878	blood:	n/a	n/a
3	BACH1	chr15:38856179-38856629	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:38856848-38857462	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:38856290-38856596	K562	blood:	n/a	n/a
6	BATF	chr15:38856232-38856566	GM12878	blood:	n/a	n/a
7	BCL3	chr15:38856282-38856625	GM12878	blood:	n/a	n/a
8	BCLAF1	chr15:38856151-38856688	GM12878	blood:	n/a	n/a
9	BCLAF1	chr15:38856794-38857311	GM12878	blood:	n/a	chr15:38856901-38856914 chr15:38856900-38856909
10	BCLAF1	chr15:38856140-38856597	GM12878	blood:	n/a	n/a
11	BHLHE40	chr15:38856891-38857246	HepG2	liver:	n/a	chr15:38856900-38856916
12	BHLHE40	chr15:38856874-38857281	K562	blood:	n/a	chr15:38856900-38856916
13	BHLHE40	chr15:38856863-38857635	GM12878	blood:	n/a	chr15:38857344-38857360 chr15:38856900-38856916
14	BHLHE40	chr15:38856013-38856625	GM12878	blood:	n/a	chr15:38856424-38856440
15	BHLHE40	chr15:38856330-38856536	K562	blood:	n/a	chr15:38856424-38856440
16	CCNT2	chr15:38856278-38857274	K562	blood:	n/a	chr15:38856682-38856691
17	CEBPB	chr15:38857083-38857143	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr15:38856342-38856423	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr15:38856286-38856481	K562	blood:	n/a	n/a
20	CEBPB	chr15:38856360-38856560	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr15:38854483-38857484	GM12878	blood:	n/a	chr15:38857153-38857163
22	CHD2	chr15:38856377-38856577	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr15:38856905-38857089	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr15:38856344-38856439	K562	blood:	n/a	n/a
25	CHD2	chr15:38855886-38857474	GM12878	blood:	n/a	chr15:38857153-38857163
26	CREB1	chr15:38856861-38857113	A549	lung:	n/a	n/a
27	CTBP2	chr15:38855868-38857758	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr15:38856300-38856450	HPAF	blood vessel:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
29	CTCF	chr15:38856898-38857127	GM10266	blood:	n/a	chr15:38856903-38856916
30	CTCF	chr15:38856920-38857070	HPF	lung:	n/a	n/a
31	CTCF	chr15:38856300-38856450	GM12872	blood:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
32	CTCF	chr15:38856300-38856450	HFF-Myc	foreskin:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
33	CTCF	chr15:38856320-38856470	GM12869	blood:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
34	CTCF	chr15:38856300-38856450	HepG2	liver:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
35	CTCF	chr15:38856247-38856540	MCF-7	breast:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
36	CTCF	chr15:38856241-38856602	A549	lung:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
37	CTCF	chr15:38856320-38856470	Caco-2	colon:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
38	CTCF	chr15:38856920-38857070	GM12872	blood:	n/a	n/a
39	CTCF	chr15:38856820-38857200	H1-hESC	embryonic stem cell:	n/a	chr15:38856903-38856916
40	CTCF	chr15:38856063-38856730	HCT-116	colon:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
41	CTCF	chr15:38856960-38857110	GM12875	blood:	n/a	n/a
42	CTCF	chr15:38856031-38856067	MCF-7	breast:	n/a	n/a
43	CTCF	chr15:38856300-38856450	HL-60	blood:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
44	CTCF	chr15:38857120-38857270	HAc	cerebellar:	n/a	n/a
45	CTCF	chr15:38856320-38856470	GM12868	blood:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
46	CTCF	chr15:38856263-38856499	MCF-7	breast:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392
47	CTCF	chr15:38856987-38857060	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr15:38856960-38857110	HRE	kidney:	n/a	n/a
49	CTCF	chr15:38856920-38857070	GM12865	blood:	n/a	n/a
50	CTCF	chr15:38856300-38856450	MCF-7	breast:	n/a	chr15:38856420-38856428 chr15:38856386-38856404 chr15:38856391-38856401 chr15:38856386-38856399 chr15:38856389-38856402 chr15:38856389-38856402 chr15:38856388-38856409 chr15:38856389-38856398 chr15:38856387-38856403 chr15:38856379-38856392

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:38857099-38857149	PFSK-1	brain:	n/a
2	chr15:38856094-38856144	HUVEC	blood vessel:	n/a
3	chr15:38857099-38857149	PFSK-1	brain:	n/a
4	chr15:38856094-38856144	HUVEC	blood vessel:	n/a
5	chr15:38857252-38857302	HRCEpiC	kidney:	n/a
6	chr15:38857474-38857524	LNCaP	prostate:	n/a
7	chr15:38857258-38857308	PFSK-1	brain:	n/a
8	chr15:38857258-38857308	PANC-1	pancreas:	n/a
9	chr15:38857099-38857149	IMR90	lung:	fetal
10	chr15:38856094-38856144	HNPCEpiC	eye:	n/a
11	chr15:38857079-38857129	PrEC	prostate:	n/a
12	chr15:38857079-38857129	IMR90	lung:	fetal
13	chr15:38856094-38856144	SK-N-SH_RA	brain:	n/a
14	chr15:38856528-38856578	HCF	heart:	n/a
15	chr15:38857695-38857745	SKMC	muscle:	n/a
16	chr15:38857252-38857302	HRPEpiC	eye:	n/a
17	chr15:38857474-38857524	A549	lung:	n/a
18	chr15:38857181-38857231	GM12878	blood:	n/a
19	chr15:38857695-38857745	NHDF-neo	bronchial:	n/a
20	chr15:38857079-38857129	GM06990	blood:	n/a
21	chr15:38856528-38856578	GM12892	blood:	n/a
22	chr15:38856094-38856144	NB4	blood:	n/a
23	chr15:38857695-38857745	HCPEpiC	choroid plexus:	n/a
24	chr15:38856341-38856391	Hela-S3	cervix:	n/a
25	chr15:38857079-38857129	HEEpiC	esophagus:	n/a
26	chr15:38857474-38857524	HIPEpiC	eye:	n/a
27	chr15:38856094-38856144	RPTEC	kidney:	n/a
28	chr15:38857079-38857129	NHDF-neo	bronchial:	n/a
29	chr15:38857258-38857308	HIPEpiC	eye:	n/a
30	chr15:38857181-38857231	AG04449	skin:	fetal
31	chr15:38857181-38857231	SAEC	small airway:	n/a
32	chr15:38857258-38857308	NHDF-neo	bronchial:	n/a
33	chr15:38857474-38857524	HCM	heart:	n/a
34	chr15:38857099-38857149	ProgFib	skin:	n/a
35	chr15:38857079-38857129	ovcar-3	ovarian:	n/a
36	chr15:38857079-38857129	ProgFib	skin:	n/a
37	chr15:38856094-38856144	MCF-7	breast:	n/a
38	chr15:38856341-38856391	NHDF-neo	bronchial:	n/a
39	chr15:38857079-38857129	NHBE	bronchial:	n/a
40	chr15:38857181-38857231	T-47D	breast:	n/a
41	chr15:38856528-38856578	PrEC	prostate:	n/a
42	chr15:38857079-38857129	HMEC	breast:	n/a
43	chr15:38856341-38856391	HRCEpiC	kidney:	n/a
44	chr15:38857474-38857524	Caco-2	colon:	n/a
45	chr15:38856341-38856391	SK-N-SH_RA	brain:	n/a
46	chr15:38857079-38857129	SK-N-SH	brain:	n/a
47	chr15:38857252-38857302	SKMC	muscle:	n/a
48	chr15:38857252-38857302	SK-N-SH	brain:	n/a
49	chr15:38857099-38857149	SK-N-SH	brain:	n/a
50	chr15:38857099-38857149	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:38731299..38733200-chr15:38858130..38860919,2	K562	blood:
2	chr15:38855702..38858314-chr15:38985984..38988881,2	MCF-7	breast:
3	chr15:38855983..38856775-chr15:38939446..38940179,2	MCF-7	breast:
4	chr14:20810314..20812793-chr15:38855404..38857234,2	MCF-7	breast:
5	chr15:38854703..38856718-chr15:38889732..38892126,2	MCF-7	breast:
6	chr15:38855957..38856812-chr15:38975562..38976269,2	MCF-7	breast:
7	chr15:38744991..38746966-chr15:38854872..38857693,2	MCF-7	breast:
8	chr15:38855739..38857440-chr15:38962653..38964526,2	MCF-7	breast:
9	chr15:38834085..38836050-chr15:38857165..38859463,2	MCF-7	breast:
10	chr15:38818335..38820661-chr15:38853754..38856224,2	MCF-7	breast:
11	chr15:38819782..38822261-chr15:38854232..38856732,2	MCF-7	breast:
12	chr15:38732611..38733581-chr15:38855892..38856789,2	K562	blood:
13	chr15:38842649..38844707-chr15:38853512..38856780,3	MCF-7	breast:
14	chr15:38856173..38856790-chr15:38919910..38920706,2	MCF-7	breast:

Variant related genes	Relation type
RASGRP1	TF binding region
RASGRP1	CpG island
ENSG00000259001	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000171262	chromatin interactions
ENSG00000201509	chromatin interactions
ENSG00000175779	chromatin interactions
ENSG00000259747	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148644796	chr15:38855801-38855802	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs549534192	chr15:38855827-38855828	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs372254343	chr15:38855828-38855829	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs181659694	chr15:38855835-38855836	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs565168202	chr15:38855868-38855869	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs546900680	chr15:38855870-38855871	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs185993917	chr15:38855911-38855912	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs544377689	chr15:38856028-38856029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs548898172	chr15:38856058-38856059	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs142104936	chr15:38856077-38856078	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs548244470	chr15:38856218-38856219	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs371372902	chr15:38856223-38856224	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs114987698	chr15:38856231-38856232	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs551762112	chr15:38856237-38856238	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs374752074	chr15:38856262-38856263	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs567563149	chr15:38856265-38856266	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs557097305	chr15:38856273-38856274	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs569416665	chr15:38856317-38856318	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs536474879	chr15:38856327-38856328	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs555045507	chr15:38856336-38856337	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs553567795	chr15:38856431-38856432	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs189099917	chr15:38856448-38856449	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs558998457	chr15:38856466-38856467	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs28693900	chr15:38856493-38856494	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
25	rs374619757	chr15:38856555-38856556	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs544536175	chr15:38856624-38856625	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs562807292	chr15:38856627-38856628	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs529893737	chr15:38856713-38856714	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs541697280	chr15:38856739-38856740	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs560149941	chr15:38856752-38856753	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs150775407	chr15:38856769-38856770	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs551727164	chr15:38856782-38856783	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs80309120	chr15:38856818-38856819	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs531239612	chr15:38856913-38856914	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs55699464	chr15:38856923-38856924	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs56413904	chr15:38856927-38856928	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs55728265	chr15:38856961-38856962	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs566912640	chr15:38857114-38857115	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs534312891	chr15:38857130-38857131	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs558960200	chr15:38857135-38857136	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs62008298	chr15:38857146-38857147	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538287325	chr15:38857250-38857251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs186581829	chr15:38857272-38857273	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs575882810	chr15:38857291-38857292	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs371863059	chr15:38857351-38857352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs574650946	chr15:38857353-38857354	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs190737488	chr15:38857386-38857387	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs112431114	chr15:38857388-38857389	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs375243764	chr15:38857429-38857430	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs367547090	chr15:38857431-38857432	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:38836200-38855800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:38847200-38855800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:38851200-38855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:38851200-38855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:38851200-38855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:38851200-38856000	Weak transcription	Lung	lung
7	chr15:38851800-38855800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
8	chr15:38852000-38856000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:38852000-38856200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr15:38852200-38856200	Flanking Active TSS	GM12878-XiMat	blood
11	chr15:38852400-38855800	Weak transcription	Pancreas	Pancrea
12	chr15:38852400-38856200	Weak transcription	Right Atrium	heart
13	chr15:38852600-38856000	Weak transcription	Fetal Heart	heart
14	chr15:38853600-38856800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr15:38853600-38857600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:38853800-38855800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:38854200-38856000	Flanking Active TSS	Thymus	Thymus
18	chr15:38854200-38856200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
19	chr15:38854800-38855800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:38854800-38855800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:38855000-38857000	Active TSS	Duodenum Mucosa	Duodenum
22	chr15:38855000-38857800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:38855200-38855800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:38855200-38855800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr15:38855200-38856000	Active TSS	Brain Anterior Caudate	brain
26	chr15:38855200-38856400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr15:38855200-38857200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:38855200-38857200	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr15:38855400-38855800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr15:38855400-38855800	Active TSS	Fetal Thymus	thymus
31	chr15:38855400-38856000	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:38855400-38856000	Weak transcription	Spleen	Spleen
33	chr15:38855400-38857400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr15:38855400-38857600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:38855600-38855800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr15:38855600-38855800	Enhancers	Brain Angular Gyrus	brain
37	chr15:38855600-38855800	Enhancers	Brain Cingulate Gyrus	brain
38	chr15:38855600-38855800	Enhancers	Brain Hippocampus Middle	brain
39	chr15:38855600-38856000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:38855600-38856200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr15:38855600-38856400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:38855600-38856400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr15:38855600-38856400	Flanking Active TSS	Dnd41	blood
44	chr15:38855600-38857200	Active TSS	Primary T cells from cord blood	blood
45	chr15:38855600-38857200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:38855600-38857800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr15:38855800-38856000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:38855800-38856000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:38855800-38856000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr15:38855800-38856000	Enhancers	Cortex derived primary cultured neurospheres	brain

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