Variant report

Variant	nsv570112
Chromosome Location	chr15:77326746-77332482
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	BCL3	chr15:77327427-77328043	A549	lung:	n/a	n/a
2	BCL3	chr15:77326463-77328028	A549	lung:	n/a	n/a
3	BCL3	chr15:77326777-77327284	A549	lung:	n/a	n/a
4	BHLHE40	chr15:77327273-77327720	K562	blood:	n/a	chr15:77327366-77327387 chr15:77327372-77327381 chr15:77327370-77327383 chr15:77327371-77327380 chr15:77327372-77327381
5	CEBPB	chr15:77330718-77330925	Hela-S3	cervix:	n/a	chr15:77330791-77330804
6	CHD2	chr15:77327435-77327673	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr15:77329799-77329867	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr15:77327544-77327607	HepG2	liver:	n/a	n/a
9	CHD2	chr15:77327460-77327662	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr15:77327520-77327670	AG09309	skin:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
11	CTCF	chr15:77327560-77327710	BE2_C	brain:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
12	CTCF	chr15:77327293-77327351	Gliobla	brain:	n/a	chr15:77327324-77327337
13	CTCF	chr15:77327490-77327755	MCF-7	breast:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
14	CTCF	chr15:77327560-77327710	A549	lung:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
15	CTCF	chr15:77327443-77327781	GM19238	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
16	CTCF	chr15:77327480-77327630	NHEK	skin:	n/a	chr15:77327607-77327620 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
17	CTCF	chr15:77326963-77328000	SK-N-SH	brain:	n/a	chr15:77327788-77327797 chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327000-77327008 chr15:77327604-77327622 chr15:77327784-77327797 chr15:77327324-77327337 chr15:77327605-77327621 chr15:77326982-77327000
18	CTCF	chr15:77327460-77327610	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr15:77327560-77327710	GM12878	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
20	CTCF	chr15:77327479-77327703	GM13976	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
21	CTCF	chr15:77327278-77327407	GM19238	blood:	n/a	chr15:77327324-77327337
22	CTCF	chr15:77327520-77327670	HCFaa	heart:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
23	CTCF	chr15:77327498-77327739	MCF-7	breast:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
24	CTCF	chr15:77327560-77327710	K562	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
25	CTCF	chr15:77327540-77327690	HCPEpiC	choroid plexus:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
26	CTCF	chr15:77327500-77327650	HCT-116	colon:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
27	CTCF	chr15:77327580-77327730	AG04450	lung:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
28	CTCF	chr15:77327506-77327762	GM19239	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
29	CTCF	chr15:77327040-77327190	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr15:77327500-77327650	GM12871	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
31	CTCF	chr15:77327488-77327753	HUVEC	blood vessel:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
32	CTCF	chr15:77327522-77327710	Kidney_OC	kidney:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
33	CTCF	chr15:77327540-77327690	NHDF-neo	bronchial:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
34	CTCF	chr15:77327520-77327670	HPAF	blood vessel:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
35	CTCF	chr15:77327540-77327690	Caco-2	colon:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
36	CTCF	chr15:77327520-77327670	BE2_C	brain:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
37	CTCF	chr15:77327302-77327308	GM19239	blood:	n/a	n/a
38	CTCF	chr15:77327520-77327670	HVMF	connective:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
39	CTCF	chr15:77327540-77327690	GM12872	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
40	CTCF	chr15:77327421-77327771	H1-hESC	embryonic stem cell:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
41	CTCF	chr15:77327540-77327690	HRE	kidney:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
42	CTCF	chr15:77327560-77327710	HAc	cerebellar:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
43	CTCF	chr15:77327160-77327310	HRE	kidney:	n/a	n/a
44	CTCF	chr15:77327457-77327763	H1-hESC	embryonic stem cell:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
45	CTCF	chr15:77327520-77327670	MCF-7	breast:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
46	CTCF	chr15:77327520-77327670	HA-sp	spinal cord:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
47	CTCF	chr15:77327620-77327770	GM12869	blood:	n/a	n/a
48	CTCF	chr15:77327600-77327750	GM12801	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
49	CTCF	chr15:77327292-77327734	ProgFib	skin:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327324-77327337 chr15:77327605-77327621
50	CTCF	chr15:77327500-77327650	AG09309	skin:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:77327887-77327937	SK-N-SH_RA	brain:	n/a
2	chr15:77327887-77327937	SK-N-SH_RA	brain:	n/a
3	chr15:77326735-77326785	IMR90	lung:	fetal
4	chr15:77326735-77326785	HPAEpiC	pulmonary alveolar:	n/a
5	chr15:77327887-77327937	LNCaP	prostate:	n/a
6	chr15:77326735-77326785	Hepatocyte	liver:	n/a
7	chr15:77326735-77326785	SK-N-SH_RA	brain:	n/a
8	chr15:77327887-77327937	NHDF-neo	bronchial:	n/a
9	chr15:77326735-77326785	AG09309	skin:	n/a
10	chr15:77327887-77327937	AG04449	skin:	fetal
11	chr15:77327887-77327937	K562	blood:	n/a
12	chr15:77326735-77326785	HRPEpiC	eye:	n/a
13	chr15:77326735-77326785	Caco-2	colon:	n/a
14	chr15:77327887-77327937	HCPEpiC	choroid plexus:	n/a
15	chr15:77326735-77326785	HepG2	liver:	n/a
16	chr15:77327887-77327937	HMEC	breast:	n/a
17	chr15:77327887-77327937	HRPEpiC	eye:	n/a
18	chr15:77326735-77326785	HIPEpiC	eye:	n/a
19	chr15:77327887-77327937	Jurkat	blood:	n/a
20	chr15:77327887-77327937	NH-A	brain:	n/a
21	chr15:77327887-77327937	HEEpiC	esophagus:	n/a
22	chr15:77326735-77326785	PrEC	prostate:	n/a
23	chr15:77327887-77327937	Caco-2	colon:	n/a
24	chr15:77326735-77326785	HRE	kidney:	n/a
25	chr15:77327887-77327937	HIPEpiC	eye:	n/a
26	chr15:77327887-77327937	SK-N-SH	brain:	n/a
27	chr15:77327887-77327937	HRE	kidney:	n/a
28	chr15:77327887-77327937	ECC-1	luminal epithelium:	n/a
29	chr15:77326735-77326785	H1-hESC	embryonic stem cell:	embryo
30	chr15:77327887-77327937	GM12878	blood:	n/a
31	chr15:77326735-77326785	HEK293	kidney:	embryo
32	chr15:77327887-77327937	AG09319	gingival:	n/a
33	chr15:77326735-77326785	GM12892	blood:	n/a
34	chr15:77326735-77326785	GM12878	blood:	n/a
35	chr15:77326735-77326785	ProgFib	skin:	n/a
36	chr15:77326735-77326785	NB4	blood:	n/a
37	chr15:77327887-77327937	HCF	heart:	n/a
38	chr15:77327887-77327937	AG04450	lung:	fetal
39	chr15:77326735-77326785	NT2-D1	testis:	n/a
40	chr15:77327887-77327937	HUVEC	blood vessel:	n/a
41	chr15:77327887-77327937	GM19239	blood:	n/a
42	chr15:77326735-77326785	SKMC	muscle:	n/a
43	chr15:77326735-77326785	Hela-S3	cervix:	n/a
44	chr15:77327887-77327937	SAEC	small airway:	n/a
45	chr15:77326735-77326785	AG04449	skin:	fetal
46	chr15:77326735-77326785	NHDF-neo	bronchial:	n/a
47	chr15:77327887-77327937	IMR90	lung:	fetal
48	chr15:77327887-77327937	NHBE	bronchial:	n/a
49	chr15:77326735-77326785	SK-N-MC	brain:	n/a
50	chr15:77327887-77327937	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77327656..77330194-chr15:77332164..77335172,3	K562	blood:
2	chr15:77325493..77328166-chr15:77329882..77331634,3	MCF-7	breast:
3	chr15:77320466..77323005-chr15:77324460..77327682,3	MCF-7	breast:
4	chr15:77328280..77330879-chr15:77355103..77356921,2	K562	blood:
5	chr15:77327656..77329511-chr15:77332033..77335172,3	K562	blood:

Variant related genes	Relation type
PSTPIP1	TF binding region
ENSG00000259652	TF binding region
PSTPIP1	CpG island
ENSG00000259652	CpG island
ENSG00000140368	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12438566	chr15:77326746-77326747	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554687342	chr15:77326752-77326753	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569632059	chr15:77326769-77326770	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537123971	chr15:77326778-77326779	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550465892	chr15:77326787-77326788	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543079840	chr15:77326826-77326827	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368186167	chr15:77326830-77326831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs115284761	chr15:77326836-77326837	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376650402	chr15:77326880-77326881	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540932134	chr15:77326929-77326930	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369333365	chr15:77326975-77326976	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144527688	chr15:77326997-77326998	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs139298465	chr15:77327014-77327015	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144174583	chr15:77327034-77327035	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs34066759	chr15:77327036-77327037	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531734146	chr15:77327047-77327048	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571360599	chr15:77327071-77327072	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565287616	chr15:77327164-77327165	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375253913	chr15:77327172-77327173	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375194190	chr15:77327173-77327174	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532500643	chr15:77327209-77327210	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548153404	chr15:77327269-77327270	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566364717	chr15:77327272-77327273	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560094760	chr15:77327276-77327277	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552311493	chr15:77327305-77327306	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559460861	chr15:77327345-77327346	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548524554	chr15:77327400-77327401	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs71447138	chr15:77327403-77327404	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570199468	chr15:77327404-77327405	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6495232	chr15:77327421-77327422	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551810833	chr15:77327439-77327440	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372796597	chr15:77327447-77327448	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570161322	chr15:77327461-77327462	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534309876	chr15:77327473-77327474	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs538667821	chr15:77327491-77327492	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552884144	chr15:77327498-77327499	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574623147	chr15:77327499-77327500	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs535713285	chr15:77327504-77327505	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs556892268	chr15:77327529-77327530	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs575354672	chr15:77327548-77327549	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs114457774	chr15:77327554-77327555	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577349507	chr15:77327556-77327557	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs9806416	chr15:77327571-77327572	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs9707978	chr15:77327577-77327578	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs559758018	chr15:77327584-77327585	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573951876	chr15:77327643-77327644	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369033286	chr15:77327666-77327667	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188548246	chr15:77327692-77327693	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548824408	chr15:77327721-77327722	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs146024481	chr15:77327734-77327735	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intellectual disability	22102821	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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77308800-77327600	Weak transcription	Esophagus	oesophagus
2	chr15:77312200-77328400	Weak transcription	Aorta	Aorta
3	chr15:77313000-77327800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:77313400-77327200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:77314600-77328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:77314800-77330000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:77315400-77330400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:77315400-77330600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:77316800-77327000	Weak transcription	Brain Substantia Nigra	brain
10	chr15:77316800-77327600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:77316800-77327800	Weak transcription	GM12878-XiMat	blood
12	chr15:77316800-77330200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:77317400-77329800	Strong transcription	Primary T cells from cord blood	blood
14	chr15:77317400-77330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:77317600-77330400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:77318400-77350600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:77319600-77327200	Weak transcription	Brain Angular Gyrus	brain
18	chr15:77321000-77328200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:77321000-77328200	Weak transcription	Right Ventricle	heart
20	chr15:77321000-77328600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:77321200-77327200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:77321200-77328200	Weak transcription	Pancreas	Pancrea
23	chr15:77321200-77330200	Weak transcription	Brain Germinal Matrix	brain
24	chr15:77321200-77331000	Weak transcription	Fetal Brain Female	brain
25	chr15:77321200-77335400	Weak transcription	Left Ventricle	heart
26	chr15:77321200-77362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:77321800-77327200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:77322000-77328000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:77322200-77326800	Enhancers	Placenta	Placenta
30	chr15:77322200-77327800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr15:77322400-77328200	Enhancers	Fetal Muscle Leg	muscle
32	chr15:77322800-77326800	Weak transcription	Brain Anterior Caudate	brain
33	chr15:77322800-77328000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:77322800-77328200	Weak transcription	A549	lung
35	chr15:77322800-77328400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:77323000-77327600	Weak transcription	NHEK	skin
37	chr15:77323000-77328000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:77323000-77328400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr15:77323000-77336000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr15:77323200-77327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:77323200-77327600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:77323200-77330600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:77323200-77334200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:77323400-77327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:77323400-77328400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:77323400-77346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:77323600-77327000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:77323600-77327200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:77323800-77326800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:77323800-77327000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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