Variant report

Variant	esv3375101
Chromosome Location	chr13:110437776-110440824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:586)
CpG islands
(count:916)
Chromatin interactive
region (count:23)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr13:110438037-110438193	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:110439162-110439355	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr13:110439610-110439935	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr13:110438776-110439348	K562	blood:	n/a	n/a
6	BHLHE40	chr13:110438833-110439061	GM12878	blood:	n/a	n/a
7	BRCA1	chr13:110438824-110439391	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr13:110438770-110439071	K562	blood:	n/a	n/a
9	CCNT2	chr13:110438073-110440307	K562	blood:	n/a	chr13:110440103-110440112 chr13:110439148-110439157 chr13:110439278-110439287
10	CEBPB	chr13:110438162-110438328	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr13:110438849-110439087	K562	blood:	n/a	n/a
12	CEBPB	chr13:110438821-110439107	IMR90	lung:	n/a	n/a
13	CEBPB	chr13:110438769-110439370	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr13:110439589-110439732	K562	blood:	n/a	n/a
15	CEBPB	chr13:110439228-110439244	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr13:110438843-110439089	A549	lung:	n/a	n/a
17	CEBPD	chr13:110438727-110439506	K562	blood:	n/a	n/a
18	CHD1	chr13:110436801-110438434	IMR90	lung:	n/a	n/a
19	CHD1	chr13:110437579-110437779	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr13:110438877-110438980	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr13:110439696-110440040	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr13:110438857-110439319	H1-hESC	embryonic stem cell:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
23	CHD2	chr13:110438856-110439323	K562	blood:	n/a	chr13:110439010-110439020 chr13:110439279-110439289
24	CHD2	chr13:110439772-110439902	K562	blood:	n/a	n/a
25	CHD2	chr13:110438718-110440183	Hela-S3	cervix:	n/a	chr13:110439684-110439694 chr13:110439010-110439020 chr13:110439279-110439289
26	CHD2	chr13:110436949-110438473	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr13:110438864-110439256	GM12878	blood:	n/a	chr13:110439010-110439020
28	CREB1	chr13:110438778-110439142	HepG2	liver:	n/a	n/a
29	CREB1	chr13:110438822-110439083	HepG2	liver:	n/a	n/a
30	CREB1	chr13:110438804-110439309	K562	blood:	n/a	n/a
31	CREB1	chr13:110438800-110439246	K562	blood:	n/a	n/a
32	CREB1	chr13:110438766-110439273	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr13:110438830-110439151	A549	lung:	n/a	n/a
34	CREB1	chr13:110438661-110439476	A549	lung:	n/a	n/a
35	CREB1	chr13:110438768-110439230	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr13:110437576-110438325	A549	lung:	n/a	n/a
37	CTCF	chr13:110439820-110439970	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr13:110439947-110440039	Gliobla	brain:	n/a	n/a
39	CTCF	chr13:110439800-110439950	HCM	heart:	n/a	n/a
40	CTCF	chr13:110439967-110440044	Fibrobl	skin:	n/a	n/a
41	CTCF	chr13:110437780-110437930	HFF	foreskin:	n/a	n/a
42	CTCF	chr13:110439820-110439970	BJ	skin:	n/a	n/a
43	CTCF	chr13:110439880-110440030	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr13:110439780-110439930	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr13:110439900-110440050	AG04449	skin:	n/a	n/a
46	CTCF	chr13:110439760-110439910	BJ	skin:	n/a	n/a
47	CTCF	chr13:110439840-110439990	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr13:110439940-110440090	HMF	breast:	n/a	n/a
49	CTCF	chr13:110438020-110438170	HMEC	breast:	n/a	n/a
50	CTCF	chr13:110439740-110439890	GM12874	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110439234-110439284	IMR90	lung:	fetal
2	chr13:110439234-110439284	IMR90	lung:	fetal
3	chr13:110438906-110438956	BE2_C	brain:	n/a
4	chr13:110438256-110438306	HNPCEpiC	eye:	n/a
5	chr13:110440352-110440402	HepG2	liver:	n/a
6	chr13:110438937-110438987	HL-60	blood:	n/a
7	chr13:110439004-110439054	AoSMC	blood vessel:	n/a
8	chr13:110438578-110438628	H1-hESC	embryonic stem cell:	embryo
9	chr13:110438256-110438306	SK-N-MC	brain:	n/a
10	chr13:110440175-110440225	ovcar-3	ovarian:	n/a
11	chr13:110438288-110438338	NT2-D1	testis:	n/a
12	chr13:110438906-110438956	RPTEC	kidney:	n/a
13	chr13:110439004-110439054	MCF-7	breast:	n/a
14	chr13:110438256-110438306	Caco-2	colon:	n/a
15	chr13:110438935-110438985	HUVEC	blood vessel:	n/a
16	chr13:110438578-110438628	GM12878	blood:	n/a
17	chr13:110439006-110439056	BE2_C	brain:	n/a
18	chr13:110439006-110439056	Jurkat	blood:	n/a
19	chr13:110439453-110439503	NHDF-neo	bronchial:	n/a
20	chr13:110439004-110439054	HCF	heart:	n/a
21	chr13:110439006-110439056	NH-A	brain:	n/a
22	chr13:110439234-110439284	HCF	heart:	n/a
23	chr13:110440179-110440229	U87	brain:	n/a
24	chr13:110438288-110438338	HMEC	breast:	n/a
25	chr13:110437759-110437809	GM12891	blood:	n/a
26	chr13:110439004-110439054	Hela-S3	cervix:	n/a
27	chr13:110440352-110440402	T-47D	breast:	n/a
28	chr13:110438916-110438966	AoSMC	blood vessel:	n/a
29	chr13:110440179-110440229	NHDF-neo	bronchial:	n/a
30	chr13:110438906-110438956	LNCaP	prostate:	n/a
31	chr13:110439004-110439054	HRE	kidney:	n/a
32	chr13:110439006-110439056	GM12891	blood:	n/a
33	chr13:110437759-110437809	MCF10A-Er-Src	breast:	n/a
34	chr13:110438288-110438338	AG10803	skin:	n/a
35	chr13:110440179-110440229	HNPCEpiC	eye:	n/a
36	chr13:110438288-110438338	GM12892	blood:	n/a
37	chr13:110439006-110439056	HMEC	breast:	n/a
38	chr13:110438578-110438628	HCF	heart:	n/a
39	chr13:110438288-110438338	H1-hESC	embryonic stem cell:	embryo
40	chr13:110440179-110440229	SAEC	small airway:	n/a
41	chr13:110438288-110438338	PrEC	prostate:	n/a
42	chr13:110438906-110438956	HRE	kidney:	n/a
43	chr13:110438937-110438987	PANC-1	pancreas:	n/a
44	chr13:110438288-110438338	Hela-S3	cervix:	n/a
45	chr13:110438916-110438966	HIPEpiC	eye:	n/a
46	chr13:110439453-110439503	SK-N-SH	brain:	n/a
47	chr13:110438256-110438306	ovcar-3	ovarian:	n/a
48	chr13:110440175-110440225	HPAEpiC	pulmonary alveolar:	n/a
49	chr13:110440352-110440402	HAEpiC	amniotic membrane:	n/a
50	chr13:110438937-110438987	MCF10A-Er-Src	breast:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:45010548..45011431-chr13:110438404..110439086,2	Hela-S3	cervix:
2	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
3	chr13:110439408..110440218-chr17:26368504..26369181,2	Hela-S3	cervix:
4	chr13:110436751..110439195-chr13:111365292..111367804,2	K562	blood:
5	chr13:21347448..21348138-chr13:110438450..110439192,2	NB4	blood:
6	chr1:145382581..145383105-chr13:110438820..110439782,2	Hela-S3	cervix:
7	chr13:110439033..110439968-chr7:104653218..104653931,2	NB4	blood:
8	chr13:110437609..110438511-chr2:70520669..70521396,2	Hela-S3	cervix:
9	chr13:110413885..110415752-chr13:110436312..110438893,2	MCF-7	breast:
10	chr13:110336875..110340182-chr13:110433980..110437911,3	K562	blood:
11	chr13:110439300..110440162-chr3:50336111..50336962,2	Hela-S3	cervix:
12	chr13:110436751..110439259-chr13:111364404..111367804,3	K562	blood:
13	chr13:110438834..110439674-chr3:197686852..197687479,2	Hela-S3	cervix:
14	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
15	chr13:110262551..110263536-chr13:110436991..110438083,3	MCF-7	breast:
16	chr13:110438490..110439006-chr6:26216450..26217232,2	Hela-S3	cervix:
17	chr13:110437956..110438456-chr2:100106242..100106983,2	K562	blood:
18	chr13:52026999..52027561-chr13:110438389..110438889,2	NB4	blood:
19	chr13:110438627..110439624-chr2:32502857..32503409,2	NB4	blood:
20	chr13:110437769..110438360-chr13:111365491..111366397,2	NB4	blood:
21	chr13:110438522..110439383-chr7:23221250..23222004,2	NB4	blood:
22	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
23	chr13:110438443..110438962-chr16:2285162..2286129,2	NB4	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120
2	lnc-COL4A2-3	chr13:110440328-110440912	NONHSAT035119
3	lnc-COL4A2-3	chr13:110439709-110439792	NONHSAT035121

No data

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

Extended variants
information (count: 61 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142923213	chr13:110437777-110437778	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs199639786	chr13:110437802-110437803	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs527813294	chr13:110437864-110437865	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs541185029	chr13:110437892-110437893	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs561296790	chr13:110437907-110437908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530047420	chr13:110438013-110438014	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs372818543	chr13:110438032-110438033	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs147430414	chr13:110438056-110438057	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs550048273	chr13:110438059-110438060	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs569892769	chr13:110438062-110438063	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs141020593	chr13:110438089-110438090	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs551982368	chr13:110438150-110438151	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs372367471	chr13:110438205-110438206	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs532810290	chr13:110438316-110438317	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs375606114	chr13:110438374-110438375	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs565561954	chr13:110438523-110438524	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs186414753	chr13:110438574-110438575	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs565491615	chr13:110438849-110438850	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs554375638	chr13:110439007-110439008	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs568001567	chr13:110439019-110439020	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs536693260	chr13:110439051-110439052	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs189870988	chr13:110439157-110439158	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs9515121	chr13:110439165-110439166	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545595064	chr13:110439309-110439310	Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs559164294	chr13:110439430-110439431	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs182125105	chr13:110439451-110439452	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs188056596	chr13:110439454-110439455	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs561275512	chr13:110439472-110439473	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
29	rs530099169	chr13:110439507-110439508	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
30	rs12858484	chr13:110439564-110439565	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71206929	chr13:110439577-110439578	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
32	rs12857529	chr13:110439594-110439595	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
33	rs117887531	chr13:110439624-110439625	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs140556515	chr13:110439737-110439738	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs192512788	chr13:110439770-110439771	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs116478161	chr13:110439788-110439789	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs11838537	chr13:110439811-110439812	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs548263239	chr13:110439890-110439891	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs568101436	chr13:110439941-110439942	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs537031467	chr13:110439951-110439952	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs3803239	chr13:110439954-110439955	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183783947	chr13:110439967-110439968	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs570481574	chr13:110439977-110439978	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs140707500	chr13:110439982-110439983	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs559298138	chr13:110440052-110440053	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs572675790	chr13:110440093-110440094	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs2150151	chr13:110440288-110440289	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs555031463	chr13:110440340-110440341	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs560638110	chr13:110440376-110440377	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs143471566	chr13:110440405-110440406	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region lncRNA	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:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr13:110431600-110437800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:110434000-110440200	Active TSS	Hela-S3	cervix
4	chr13:110434400-110440200	Active TSS	HSMM	muscle
5	chr13:110435000-110440400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:110435600-110439000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:110435800-110438400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:110435800-110440400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr13:110436000-110437800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr13:110436000-110439800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:110436000-110440400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr13:110436000-110440600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr13:110436000-110441000	Active TSS	HSMMtube	muscle
14	chr13:110436200-110437800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr13:110436200-110438400	Active TSS	Brain Anterior Caudate	brain
16	chr13:110436200-110440400	Active TSS	Brain Angular Gyrus	brain
17	chr13:110436200-110440400	Active TSS	Colon Smooth Muscle	Colon
18	chr13:110436200-110441000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr13:110436400-110438200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:110436400-110438400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr13:110436400-110438400	Active TSS	A549	lung
22	chr13:110436400-110440000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr13:110436400-110440400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:110436400-110440400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr13:110436400-110440400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:110436400-110440600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr13:110436400-110440600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr13:110436600-110437800	Transcr. at gene 5' and 3'	Spleen	Spleen
29	chr13:110436600-110438400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:110436600-110438400	Active TSS	Brain Substantia Nigra	brain
31	chr13:110436600-110439400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr13:110436600-110439800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:110436600-110440000	Active TSS	Liver	Liver
34	chr13:110436600-110440200	Active TSS	Duodenum Mucosa	Duodenum
35	chr13:110436600-110440200	Active TSS	NHEK	skin
36	chr13:110436600-110440400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:110436600-110440400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr13:110436600-110440400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr13:110436600-110440400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr13:110436600-110440400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr13:110436600-110440800	Weak transcription	Fetal Heart	heart
42	chr13:110436800-110439600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:110436800-110439600	Active TSS	Brain Germinal Matrix	brain
44	chr13:110436800-110439800	Active TSS	Left Ventricle	heart
45	chr13:110436800-110440000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:110436800-110440000	Active TSS	Rectal Smooth Muscle	rectum
47	chr13:110436800-110440200	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr13:110436800-110440200	Active TSS	Small Intestine	intestine
49	chr13:110436800-110440200	Active TSS	NH-A	brain
50	chr13:110436800-110440400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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