Variant report

Variant	nsv563092
Chromosome Location	chr13:110435953-110439954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:856)
CpG islands
(count:1038)
Chromatin interactive
region (count:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:856 , 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	chr13:110439162-110439355	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:110437536-110437689	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	chr13:110439610-110439935	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr13:110438037-110438193	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr13:110438833-110439061	GM12878	blood:	n/a	n/a
8	BHLHE40	chr13:110438776-110439348	K562	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	chr13:110438843-110439089	A549	lung:	n/a	n/a
14	CEBPB	chr13:110438162-110438328	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr13:110439228-110439244	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr13:110439589-110439732	K562	blood:	n/a	n/a
17	CEBPB	chr13:110438821-110439107	IMR90	lung:	n/a	n/a
18	CEBPB	chr13:110436946-110437196	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr13:110438849-110439087	K562	blood:	n/a	n/a
20	CEBPB	chr13:110438769-110439370	Hela-S3	cervix:	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	chr13:110438856-110439323	K562	blood:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
26	CHD2	chr13:110438718-110440183	Hela-S3	cervix:	n/a	chr13:110439684-110439694 chr13:110439010-110439020 chr13:110439279-110439289
27	CHD2	chr13:110438857-110439319	H1-hESC	embryonic stem cell:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
28	CHD2	chr13:110436949-110438473	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr13:110438864-110439256	GM12878	blood:	n/a	chr13:110439010-110439020
30	CHD2	chr13:110439696-110440040	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr13:110439772-110439902	K562	blood:	n/a	n/a
32	CHD2	chr13:110435963-110436155	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr13:110436877-110437326	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr13:110438804-110439309	K562	blood:	n/a	n/a
35	CREB1	chr13:110438830-110439151	A549	lung:	n/a	n/a
36	CREB1	chr13:110438822-110439083	HepG2	liver:	n/a	n/a
37	CREB1	chr13:110438766-110439273	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr13:110438661-110439476	A549	lung:	n/a	n/a
39	CREB1	chr13:110437576-110438325	A549	lung:	n/a	n/a
40	CREB1	chr13:110438768-110439230	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr13:110436531-110437309	A549	lung:	n/a	n/a
42	CREB1	chr13:110438778-110439142	HepG2	liver:	n/a	n/a
43	CREB1	chr13:110438800-110439246	K562	blood:	n/a	n/a
44	CTCF	chr13:110437040-110437190	HMF	breast:	n/a	n/a
45	CTCF	chr13:110439692-110440247	K562	blood:	n/a	n/a
46	CTCF	chr13:110437925-110437932	ProgFib	skin:	n/a	n/a
47	CTCF	chr13:110439760-110439910	Caco-2	colon:	n/a	n/a
48	CTCF	chr13:110437420-110437570	BJ	skin:	n/a	n/a
49	CTCF	chr13:110437360-110437510	NHEK	skin:	n/a	n/a
50	CTCF	chr13:110437020-110437170	HBMEC	blood vessel:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110438937-110438987	HCPEpiC	choroid plexus:	n/a
2	chr13:110438937-110438987	HCPEpiC	choroid plexus:	n/a
3	chr13:110438578-110438628	A549	lung:	n/a
4	chr13:110438935-110438985	MCF10A-Er-Src	breast:	n/a
5	chr13:110438288-110438338	HMEC	breast:	n/a
6	chr13:110438916-110438966	Hela-S3	cervix:	n/a
7	chr13:110439006-110439056	Jurkat	blood:	n/a
8	chr13:110438935-110438985	GM19239	blood:	n/a
9	chr13:110436111-110436161	NT2-D1	testis:	n/a
10	chr13:110439453-110439503	HNPCEpiC	eye:	n/a
11	chr13:110438288-110438338	GM19239	blood:	n/a
12	chr13:110436780-110436830	HAEpiC	amniotic membrane:	n/a
13	chr13:110437093-110437143	HUVEC	blood vessel:	n/a
14	chr13:110438937-110438987	LNCaP	prostate:	n/a
15	chr13:110438935-110438985	AoSMC	blood vessel:	n/a
16	chr13:110436111-110436161	GM06990	blood:	n/a
17	chr13:110438288-110438338	ECC-1	luminal epithelium:	n/a
18	chr13:110439004-110439054	PrEC	prostate:	n/a
19	chr13:110438937-110438987	PrEC	prostate:	n/a
20	chr13:110437561-110437611	MCF-7	breast:	n/a
21	chr13:110439453-110439503	AG09309	skin:	n/a
22	chr13:110439004-110439054	HepG2	liver:	n/a
23	chr13:110438906-110438956	HCF	heart:	n/a
24	chr13:110438906-110438956	HPAEpiC	pulmonary alveolar:	n/a
25	chr13:110439234-110439284	BJ	skin:	n/a
26	chr13:110436111-110436161	NHDF-neo	bronchial:	n/a
27	chr13:110438578-110438628	GM12891	blood:	n/a
28	chr13:110436740-110436790	RPTEC	kidney:	n/a
29	chr13:110438916-110438966	AoSMC	blood vessel:	n/a
30	chr13:110438578-110438628	H1-hESC	embryonic stem cell:	embryo
31	chr13:110436111-110436161	BE2_C	brain:	n/a
32	chr13:110439004-110439054	H1-hESC	embryonic stem cell:	embryo
33	chr13:110438906-110438956	CMK	blood:	n/a
34	chr13:110437561-110437611	GM12878	blood:	n/a
35	chr13:110438288-110438338	HepG2	liver:	n/a
36	chr13:110439004-110439054	T-47D	breast:	n/a
37	chr13:110438906-110438956	GM06990	blood:	n/a
38	chr13:110438937-110438987	GM12878	blood:	n/a
39	chr13:110437759-110437809	U87	brain:	n/a
40	chr13:110439004-110439054	NB4	blood:	n/a
41	chr13:110438256-110438306	AoSMC	blood vessel:	n/a
42	chr13:110437093-110437143	NH-A	brain:	n/a
43	chr13:110438937-110438987	HL-60	blood:	n/a
44	chr13:110439006-110439056	AoSMC	blood vessel:	n/a
45	chr13:110436111-110436161	AG04450	lung:	fetal
46	chr13:110439234-110439284	MCF10A-Er-Src	breast:	n/a
47	chr13:110437759-110437809	T-47D	breast:	n/a
48	chr13:110438916-110438966	BE2_C	brain:	n/a
49	chr13:110438935-110438985	HL-60	blood:	n/a
50	chr13:110438937-110438987	AG10803	skin:	n/a

(count:34 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 96 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	rs76110593	chr13:110436401-110436402	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148008220	chr13:110436418-110436419	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368876625	chr13:110436422-110436423	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370795522	chr13:110436448-110436449	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs137852740	chr13:110436462-110436463	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150566914	chr13:110436463-110436464	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373775290	chr13:110436472-110436473	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373720291	chr13:110436487-110436488	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200921529	chr13:110436514-110436515	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528088142	chr13:110436520-110436521	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567423781	chr13:110436560-110436561	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs45545638	chr13:110436569-110436570	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs377510110	chr13:110436584-110436585	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs61743905	chr13:110436667-110436668	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374095577	chr13:110436679-110436680	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569788055	chr13:110436728-110436729	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538495683	chr13:110436744-110436745	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377019243	chr13:110436751-110436752	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558221849	chr13:110436768-110436769	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs191567006	chr13:110436778-110436779	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs373800038	chr13:110436780-110436781	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs367717168	chr13:110436799-110436800	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs367592112	chr13:110436867-110436868	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs370070067	chr13:110436879-110436880	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs374058377	chr13:110436889-110436890	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs554521999	chr13:110436891-110436892	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs572999394	chr13:110436922-110436923	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs112538656	chr13:110436949-110436950	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs543264637	chr13:110437189-110437190	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556582071	chr13:110437233-110437234	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs367981041	chr13:110437448-110437449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 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:553 , 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	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:110431600-110437800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:110431800-110436400	Transcr. at gene 5' and 3'	A549	lung
8	chr13:110431800-110436400	Weak transcription	HUVEC	blood vessel
9	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
11	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:110433200-110436400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Ovary	ovary
14	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
15	chr13:110433400-110436400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:110433400-110436600	Genic enhancers	Spleen	Spleen
17	chr13:110433400-110436800	Transcr. at gene 5' and 3'	Left Ventricle	heart
18	chr13:110433400-110437600	Transcr. at gene 5' and 3'	Right Ventricle	heart
19	chr13:110433600-110436000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr13:110433600-110436600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
21	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
23	chr13:110433800-110436400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:110433800-110436400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:110433800-110436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:110433800-110436800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
27	chr13:110434000-110436000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:110434000-110436400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr13:110434000-110436800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:110434000-110436800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:110434000-110437000	Enhancers	Fetal Brain Male	brain
32	chr13:110434000-110437200	Weak transcription	Primary T cells from cord blood	blood
33	chr13:110434000-110437600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr13:110434000-110440200	Active TSS	Hela-S3	cervix
35	chr13:110434200-110436000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:110434200-110436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:110434200-110436400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:110434200-110436400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:110434200-110437400	Weak transcription	Fetal Lung	lung
40	chr13:110434400-110436000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:110434400-110436000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr13:110434400-110436000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:110434400-110436000	Weak transcription	Brain Substantia Nigra	brain
44	chr13:110434400-110436000	Strong transcription	Fetal Intestine Small	intestine
45	chr13:110434400-110436000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr13:110434400-110436200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:110434400-110436200	Strong transcription	Fetal Muscle Leg	muscle
48	chr13:110434400-110436400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:110434400-110436400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:110434400-110436400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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