Variant report

Variant	nsv563090
Chromosome Location	chr13:110435231-110439954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:869)
CpG islands
(count:1100)
Chromatin interactive
region (count:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:110439189-110439250	K562	blood:	n/a	n/a
2	BACH1	chr13:110437536-110437689	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:110439610-110439935	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr13:110436949-110437136	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr13:110438037-110438193	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr13:110439162-110439355	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr13:110438776-110439348	K562	blood:	n/a	n/a
8	BHLHE40	chr13:110438833-110439061	GM12878	blood:	n/a	n/a
9	BRCA1	chr13:110438824-110439391	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr13:110437026-110437199	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr13:110438770-110439071	K562	blood:	n/a	n/a
12	CCNT2	chr13:110438073-110440307	K562	blood:	n/a	chr13:110440103-110440112 chr13:110439148-110439157 chr13:110439278-110439287
13	CEBPB	chr13:110439228-110439244	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr13:110438843-110439089	A549	lung:	n/a	n/a
15	CEBPB	chr13:110438162-110438328	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr13:110436946-110437196	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr13:110438849-110439087	K562	blood:	n/a	n/a
18	CEBPB	chr13:110438821-110439107	IMR90	lung:	n/a	n/a
19	CEBPB	chr13:110438769-110439370	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr13:110439589-110439732	K562	blood:	n/a	n/a
21	CEBPD	chr13:110438727-110439506	K562	blood:	n/a	n/a
22	CHD1	chr13:110437579-110437779	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr13:110436801-110438434	IMR90	lung:	n/a	n/a
24	CHD1	chr13:110438877-110438980	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr13:110439696-110440040	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr13:110439772-110439902	K562	blood:	n/a	n/a
27	CHD2	chr13:110436949-110438473	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr13:110435922-110435936	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr13:110438857-110439319	H1-hESC	embryonic stem cell:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
30	CHD2	chr13:110438864-110439256	GM12878	blood:	n/a	chr13:110439010-110439020
31	CHD2	chr13:110438718-110440183	Hela-S3	cervix:	n/a	chr13:110439684-110439694 chr13:110439010-110439020 chr13:110439279-110439289
32	CHD2	chr13:110435963-110436155	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr13:110438856-110439323	K562	blood:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
34	CREB1	chr13:110437576-110438325	A549	lung:	n/a	n/a
35	CREB1	chr13:110438822-110439083	HepG2	liver:	n/a	n/a
36	CREB1	chr13:110438661-110439476	A549	lung:	n/a	n/a
37	CREB1	chr13:110438768-110439230	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr13:110434893-110435575	A549	lung:	n/a	n/a
39	CREB1	chr13:110438804-110439309	K562	blood:	n/a	n/a
40	CREB1	chr13:110438778-110439142	HepG2	liver:	n/a	n/a
41	CREB1	chr13:110438800-110439246	K562	blood:	n/a	n/a
42	CREB1	chr13:110438766-110439273	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr13:110438830-110439151	A549	lung:	n/a	n/a
44	CREB1	chr13:110436531-110437309	A549	lung:	n/a	n/a
45	CREB1	chr13:110436877-110437326	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr13:110437022-110437241	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr13:110439940-110440090	HMF	breast:	n/a	n/a
48	CTCF	chr13:110437040-110437190	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr13:110439820-110439970	AG09319	gingival:	n/a	n/a
50	CTCF	chr13:110437040-110437190	NHDF-neo	bronchial:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110438935-110438985	HNPCEpiC	eye:	n/a
2	chr13:110438288-110438338	U87	brain:	n/a
3	chr13:110438935-110438985	HNPCEpiC	eye:	n/a
4	chr13:110438288-110438338	U87	brain:	n/a
5	chr13:110438935-110438985	HEK293	kidney:	embryo
6	chr13:110438256-110438306	NHDF-neo	bronchial:	n/a
7	chr13:110439006-110439056	Hela-S3	cervix:	n/a
8	chr13:110439004-110439054	K562	blood:	n/a
9	chr13:110438578-110438628	BJ	skin:	n/a
10	chr13:110438916-110438966	IMR90	lung:	fetal
11	chr13:110436780-110436830	U87	brain:	n/a
12	chr13:110439453-110439503	ProgFib	skin:	n/a
13	chr13:110438288-110438338	PrEC	prostate:	n/a
14	chr13:110436740-110436790	HCT-116	colon:	n/a
15	chr13:110438288-110438338	HRPEpiC	eye:	n/a
16	chr13:110438916-110438966	MCF10A-Er-Src	breast:	n/a
17	chr13:110438288-110438338	HIPEpiC	eye:	n/a
18	chr13:110439453-110439503	H1-hESC	embryonic stem cell:	embryo
19	chr13:110436111-110436161	BE2_C	brain:	n/a
20	chr13:110435424-110435474	SAEC	small airway:	n/a
21	chr13:110438906-110438956	AG09319	gingival:	n/a
22	chr13:110438937-110438987	A549	lung:	n/a
23	chr13:110438935-110438985	MCF-7	breast:	n/a
24	chr13:110439453-110439503	HNPCEpiC	eye:	n/a
25	chr13:110436740-110436790	LNCaP	prostate:	n/a
26	chr13:110439006-110439056	GM12878	blood:	n/a
27	chr13:110438937-110438987	HMEC	breast:	n/a
28	chr13:110439453-110439503	BE2_C	brain:	n/a
29	chr13:110438256-110438306	MCF10A-Er-Src	breast:	n/a
30	chr13:110438256-110438306	K562	blood:	n/a
31	chr13:110438288-110438338	HL-60	blood:	n/a
32	chr13:110438916-110438966	HNPCEpiC	eye:	n/a
33	chr13:110438906-110438956	GM06990	blood:	n/a
34	chr13:110436111-110436161	HCF	heart:	n/a
35	chr13:110438935-110438985	ProgFib	skin:	n/a
36	chr13:110437093-110437143	HCT-116	colon:	n/a
37	chr13:110436740-110436790	HCF	heart:	n/a
38	chr13:110436740-110436790	MCF-7	breast:	n/a
39	chr13:110436111-110436161	HUVEC	blood vessel:	n/a
40	chr13:110438937-110438987	AG09319	gingival:	n/a
41	chr13:110436111-110436161	MCF-7	breast:	n/a
42	chr13:110438937-110438987	HRCEpiC	kidney:	n/a
43	chr13:110438906-110438956	Caco-2	colon:	n/a
44	chr13:110438937-110438987	SK-N-SH	brain:	n/a
45	chr13:110438256-110438306	GM19239	blood:	n/a
46	chr13:110438578-110438628	Caco-2	colon:	n/a
47	chr13:110439234-110439284	AG10803	skin:	n/a
48	chr13:110436111-110436161	ovcar-3	ovarian:	n/a
49	chr13:110436111-110436161	HCPEpiC	choroid plexus:	n/a
50	chr13:110436780-110436830	MCF10A-Er-Src	breast:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52026999..52027561-chr13:110438389..110438889,2	NB4	blood:
2	chr13:110413885..110415752-chr13:110436312..110438893,2	MCF-7	breast:
3	chr13:110436747..110437632-chr2:157188777..157189594,2	Hela-S3	cervix:
4	chr13:110435545..110437326-chr13:110470827..110473616,2	K562	blood:
5	chr13:110336875..110339890-chr13:110432636..110435480,3	K562	blood:
6	chr13:109797639..109798548-chr13:110436659..110437260,3	MCF-7	breast:
7	chr13:110438443..110438962-chr16:2285162..2286129,2	NB4	blood:
8	chr13:110348737..110350886-chr13:110432945..110435656,2	K562	blood:
9	chr13:110437956..110438456-chr2:100106242..100106983,2	K562	blood:
10	chr13:110406850..110408586-chr13:110434989..110436543,2	K562	blood:
11	chr13:110437769..110438360-chr13:111365491..111366397,2	NB4	blood:
12	chr13:110336875..110340182-chr13:110433980..110437911,3	K562	blood:
13	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
14	chr13:110262551..110263536-chr13:110436991..110438083,3	MCF-7	breast:
15	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:
16	chr13:110437609..110438511-chr2:70520669..70521396,2	Hela-S3	cervix:
17	chr13:110438627..110439624-chr2:32502857..32503409,2	NB4	blood:
18	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
19	chr1:145382581..145383105-chr13:110438820..110439782,2	Hela-S3	cervix:
20	chr13:110079830..110080650-chr13:110436980..110437762,2	MCF-7	breast:
21	chr13:110308109..110310593-chr13:110433626..110436596,2	K562	blood:
22	chr13:45010548..45011431-chr13:110438404..110439086,2	Hela-S3	cervix:
23	chr13:110372207..110373827-chr13:110434766..110436789,2	K562	blood:
24	chr13:110367353..110370316-chr13:110433831..110435383,2	K562	blood:
25	chr13:110438490..110439006-chr6:26216450..26217232,2	Hela-S3	cervix:
26	chr13:110372327..110374107-chr13:110434766..110436742,2	K562	blood:
27	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
28	chr13:110439300..110440162-chr3:50336111..50336962,2	Hela-S3	cervix:
29	chr13:110439033..110439968-chr7:104653218..104653931,2	NB4	blood:
30	chr13:110387460..110391261-chr13:110433185..110436412,3	K562	blood:
31	chr13:110436751..110439259-chr13:111364404..111367804,3	K562	blood:
32	chr13:110439408..110440218-chr17:26368504..26369181,2	Hela-S3	cervix:
33	chr13:110173341..110174851-chr13:110433335..110435967,2	MCF-7	breast:
34	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
35	chr13:21347448..21348138-chr13:110438450..110439192,2	NB4	blood:
36	chr13:110438522..110439383-chr7:23221250..23222004,2	NB4	blood:
37	chr13:110436751..110439195-chr13:111365292..111367804,2	K562	blood:
38	chr13:110438834..110439674-chr3:197686852..197687479,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120
2	lnc-COL4A2-3	chr13:110439709-110439792	NONHSAT035121

No data

Variant related genes	Relation type
IRS2	TF binding region
IRS2	CpG island
ENSG00000243477	chromatin interactions
ENSG00000143977	chromatin interactions
ENSG00000167968	chromatin interactions
ENSG00000255813	chromatin interactions
ENSG00000119820	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000153234	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000225727	chromatin interactions
ENSG00000136243	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000102804	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000087095	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000150456	chromatin interactions
ENSG00000185621	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000114473	chromatin interactions
ENSG00000245149	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1805097	chr13:110435231-110435232	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569375321	chr13:110435245-110435246	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567475360	chr13:110435284-110435285	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538782363	chr13:110435294-110435295	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9583424	chr13:110435302-110435303	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374646063	chr13:110435308-110435309	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534043996	chr13:110435326-110435327	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554117450	chr13:110435339-110435340	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181689224	chr13:110435364-110435365	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542852566	chr13:110435374-110435375	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35927012	chr13:110435406-110435407	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576119214	chr13:110435422-110435423	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544728854	chr13:110435516-110435517	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1056077	chr13:110435529-110435530	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1056078	chr13:110435534-110435535	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564509156	chr13:110435549-110435550	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34889228	chr13:110435551-110435552	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1056080	chr13:110435557-110435558	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1056081	chr13:110435563-110435564	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540480985	chr13:110435584-110435585	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112819737	chr13:110435587-110435588	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374227137	chr13:110435692-110435693	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75172981	chr13:110435728-110435729	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201499247	chr13:110435756-110435757	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549588978	chr13:110435766-110435767	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536431176	chr13:110435770-110435771	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531803302	chr13:110435794-110435795	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552939820	chr13:110435824-110435825	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113441645	chr13:110435882-110435883	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12853546	chr13:110435914-110435915	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534184733	chr13:110435926-110435927	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4773092	chr13:110435953-110435954	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201575226	chr13:110435964-110435965	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371833656	chr13:110435980-110435981	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536041913	chr13:110435991-110435992	Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35223808	chr13:110436036-110436037	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556298412	chr13:110436046-110436047	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35894564	chr13:110436058-110436059	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199672355	chr13:110436062-110436063	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140229481	chr13:110436067-110436068	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375525958	chr13:110436071-110436072	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558236298	chr13:110436171-110436172	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571706071	chr13:110436190-110436191	Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs3742210	chr13:110436232-110436233	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560609290	chr13:110436260-110436261	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34412495	chr13:110436296-110436297	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61962699	chr13:110436316-110436317	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574304703	chr13:110436324-110436325	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542971879	chr13:110436334-110436335	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372717883	chr13:110436379-110436380	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr13:110430800-110436800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr13:110431400-110436200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
4	chr13:110431600-110435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:110431600-110437800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:110431800-110436400	Transcr. at gene 5' and 3'	A549	lung
9	chr13:110431800-110436400	Weak transcription	HUVEC	blood vessel
10	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
12	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:110433200-110436400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Ovary	ovary
15	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
16	chr13:110433400-110435800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:110433400-110436400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:110433400-110436600	Genic enhancers	Spleen	Spleen
19	chr13:110433400-110436800	Transcr. at gene 5' and 3'	Left Ventricle	heart
20	chr13:110433400-110437600	Transcr. at gene 5' and 3'	Right Ventricle	heart
21	chr13:110433600-110436000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:110433600-110436600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
23	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
25	chr13:110433800-110436400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr13:110433800-110436400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:110433800-110436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:110433800-110436800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
29	chr13:110434000-110436000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:110434000-110436400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr13:110434000-110436800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:110434000-110436800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:110434000-110437000	Enhancers	Fetal Brain Male	brain
34	chr13:110434000-110437200	Weak transcription	Primary T cells from cord blood	blood
35	chr13:110434000-110437600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr13:110434000-110440200	Active TSS	Hela-S3	cervix
37	chr13:110434200-110436000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:110434200-110436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:110434200-110436400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr13:110434200-110436400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:110434200-110437400	Weak transcription	Fetal Lung	lung
42	chr13:110434400-110435400	Bivalent Enhancer	Placenta	Placenta
43	chr13:110434400-110435400	Flanking Active TSS	HMEC	breast
44	chr13:110434400-110435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:110434400-110435800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:110434400-110435800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr13:110434400-110435800	Weak transcription	Primary B cells from cord blood	blood
48	chr13:110434400-110435800	Strong transcription	Fetal Stomach	stomach
49	chr13:110434400-110436000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:110434400-110436000	Weak transcription	Primary T cells fromperipheralblood	blood

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