Variant report

Variant	esv3411799
Chromosome Location	chr8:124779296-124782144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:916)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:124780234-124780340	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:124779422-124779617	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:124779847-124779853	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:124780627-124780835	HepG2	liver:	n/a	n/a
5	ATF1	chr8:124780474-124780833	K562	blood:	n/a	n/a
6	ATF2	chr8:124780418-124780846	GM12878	blood:	n/a	n/a
7	BCLAF1	chr8:124780600-124781134	GM12878	blood:	n/a	chr8:124780648-124780661 chr8:124780659-124780668
8	BHLHE40	chr8:124780491-124781131	K562	blood:	n/a	chr8:124780643-124780659
9	BHLHE40	chr8:124780329-124780944	GM12878	blood:	n/a	chr8:124780643-124780659
10	BRCA1	chr8:124780489-124780839	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr8:124780697-124780865	HepG2	liver:	n/a	n/a
12	CBX3	chr8:124780467-124780950	K562	blood:	n/a	n/a
13	CBX3	chr8:124781434-124782131	K562	blood:	n/a	n/a
14	CCNT2	chr8:124780322-124781169	K562	blood:	n/a	chr8:124780632-124780641
15	CEBPB	chr8:124780205-124780209	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPD	chr8:124780339-124780897	HepG2	liver:	n/a	n/a
17	CHD1	chr8:124780523-124781226	GM12878	blood:	n/a	chr8:124780882-124780892 chr8:124780584-124780594
18	CHD1	chr8:124780708-124780985	H1-hESC	embryonic stem cell:	n/a	chr8:124780882-124780892
19	CHD1	chr8:124779752-124781938	IMR90	lung:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
20	CHD2	chr8:124780766-124780924	K562	blood:	n/a	chr8:124780882-124780892
21	CHD2	chr8:124780432-124780444	K562	blood:	n/a	n/a
22	CHD2	chr8:124780341-124780906	GM12878	blood:	n/a	chr8:124780882-124780892 chr8:124780584-124780594
23	CHD2	chr8:124780462-124780507	HepG2	liver:	n/a	n/a
24	CHD2	chr8:124780339-124780806	H1-hESC	embryonic stem cell:	n/a	chr8:124780584-124780594
25	CHD2	chr8:124780196-124781268	Hela-S3	cervix:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
26	CHD2	chr8:124781596-124781644	K562	blood:	n/a	n/a
27	CREB1	chr8:124780351-124780922	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr8:124780400-124780920	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr8:124779947-124781290	HepG2	liver:	n/a	n/a
30	CREB1	chr8:124780308-124781337	K562	blood:	n/a	n/a
31	CREB1	chr8:124780318-124781040	GM12878	blood:	n/a	n/a
32	CREB1	chr8:124780332-124781086	A549	lung:	n/a	n/a
33	CREB1	chr8:124780437-124780873	A549	lung:	n/a	n/a
34	CREB1	chr8:124779961-124780954	HepG2	liver:	n/a	n/a
35	CREB1	chr8:124780294-124781032	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr8:124780428-124780882	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr8:124780266-124780941	K562	blood:	n/a	n/a
38	CTCF	chr8:124780460-124780610	AG04449	skin:	n/a	n/a
39	CTCF	chr8:124780680-124780830	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr8:124780580-124780730	GM12867	blood:	n/a	chr8:124780596-124780614 chr8:124780650-124780663
41	CTCF	chr8:124780520-124780670	GM12874	blood:	n/a	chr8:124780596-124780614 chr8:124780650-124780663
42	CTCF	chr8:124780900-124781050	HMEC	breast:	n/a	n/a
43	CTCF	chr8:124780520-124780670	GM12871	blood:	n/a	chr8:124780596-124780614 chr8:124780650-124780663
44	CTCF	chr8:124780570-124780584	K562	blood:	n/a	n/a
45	CTCF	chr8:124780496-124780793	GM12878	blood:	n/a	chr8:124780596-124780614 chr8:124780650-124780663
46	CTCF	chr8:124780523-124780676	Kidney_OC	kidney:	n/a	chr8:124780596-124780614 chr8:124780650-124780663
47	CTCF	chr8:124780480-124780630	HCPEpiC	choroid plexus:	n/a	chr8:124780596-124780614
48	CTCF	chr8:124780520-124780670	GM12869	blood:	n/a	chr8:124780596-124780614 chr8:124780650-124780663
49	CTCF	chr8:124780501-124780767	Spleen_OC	spleen:	n/a	chr8:124780596-124780614 chr8:124780650-124780663
50	CTCF	chr8:124780623-124780682	GM13976	blood:	n/a	chr8:124780650-124780663

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124780690-124780740	AG09309	skin:	n/a
2	chr8:124780690-124780740	AG09309	skin:	n/a
3	chr8:124780351-124780401	HCT-116	colon:	n/a
4	chr8:124780351-124780401	Hela-S3	cervix:	n/a
5	chr8:124781210-124781260	GM12878	blood:	n/a
6	chr8:124780849-124780899	NHDF-neo	bronchial:	n/a
7	chr8:124780839-124780889	U87	brain:	n/a
8	chr8:124780849-124780899	GM19239	blood:	n/a
9	chr8:124780013-124780063	HMEC	breast:	n/a
10	chr8:124780690-124780740	GM12891	blood:	n/a
11	chr8:124780424-124780474	SAEC	small airway:	n/a
12	chr8:124780849-124780899	ProgFib	skin:	n/a
13	chr8:124780690-124780740	Caco-2	colon:	n/a
14	chr8:124780690-124780740	ECC-1	luminal epithelium:	n/a
15	chr8:124780287-124780337	PFSK-1	brain:	n/a
16	chr8:124780924-124780974	NHBE	bronchial:	n/a
17	chr8:124780013-124780063	PFSK-1	brain:	n/a
18	chr8:124780351-124780401	PFSK-1	brain:	n/a
19	chr8:124780357-124780407	HCT-116	colon:	n/a
20	chr8:124780911-124780961	HEEpiC	esophagus:	n/a
21	chr8:124780287-124780337	AG10803	skin:	n/a
22	chr8:124780351-124780401	NHDF-neo	bronchial:	n/a
23	chr8:124780849-124780899	Hela-S3	cervix:	n/a
24	chr8:124780746-124780796	MCF-7	breast:	n/a
25	chr8:124780730-124780780	HPAEpiC	pulmonary alveolar:	n/a
26	chr8:124780839-124780889	SAEC	small airway:	n/a
27	chr8:124780746-124780796	Hepatocyte	liver:	n/a
28	chr8:124780424-124780474	GM06990	blood:	n/a
29	chr8:124780837-124780887	AoSMC	blood vessel:	n/a
30	chr8:124780837-124780887	Hela-S3	cervix:	n/a
31	chr8:124780851-124780901	GM19239	blood:	n/a
32	chr8:124780746-124780796	HNPCEpiC	eye:	n/a
33	chr8:124780849-124780899	Hepatocyte	liver:	n/a
34	chr8:124780357-124780407	AG04450	lung:	fetal
35	chr8:124780351-124780401	Jurkat	blood:	n/a
36	chr8:124780746-124780796	GM12892	blood:	n/a
37	chr8:124780837-124780887	NT2-D1	testis:	n/a
38	chr8:124780730-124780780	HRE	kidney:	n/a
39	chr8:124780839-124780889	SKMC	muscle:	n/a
40	chr8:124780911-124780961	PANC-1	pancreas:	n/a
41	chr8:124780924-124780974	NT2-D1	testis:	n/a
42	chr8:124780911-124780961	K562	blood:	n/a
43	chr8:124780837-124780887	H1-hESC	embryonic stem cell:	embryo
44	chr8:124780837-124780887	GM12892	blood:	n/a
45	chr8:124780690-124780740	NHBE	bronchial:	n/a
46	chr8:124780839-124780889	HIPEpiC	eye:	n/a
47	chr8:124780746-124780796	AG09319	gingival:	n/a
48	chr8:124780730-124780780	HNPCEpiC	eye:	n/a
49	chr8:124780287-124780337	HCT-116	colon:	n/a
50	chr8:124780849-124780899	HCM	heart:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124781673..124784169-chr8:125486247..125488421,2	K562	blood:
2	chr7:143208372..143211221-chr8:124779157..124780732,2	MCF-7	breast:
3	chr8:124778149..124780691-chr9:110801897..110804862,2	MCF-7	breast:
4	chr8:124284489..124287239-chr8:124781674..124783282,2	MCF-7	breast:
5	chr8:124427993..124430634-chr8:124780278..124783215,3	MCF-7	breast:
6	chr8:124498554..124499181-chr8:124778598..124779547,2	MCF-7	breast:
7	chr8:124778654..124780611-chr8:124799801..124801881,2	MCF-7	breast:
8	chr20:49341430..49342089-chr8:124780067..124780584,2	HCT-116	colon:
9	chr17:1302797..1303588-chr8:124780278..124780843,2	Hela-S3	cervix:
10	chr6:127664357..127665118-chr8:124780247..124780945,2	HCT-116	colon:
11	chr8:124705081..124707705-chr8:124777857..124780105,2	MCF-7	breast:
12	chr8:124286589..124288147-chr8:124780495..124782975,2	K562	blood:
13	chr8:124781580..124785011-chr8:124789529..124792359,3	K562	blood:
14	chr8:124780302..124782573-chr8:125486403..125488504,7	MCF-7	breast:
15	chr8:124429815..124432313-chr8:124778028..124780178,2	K562	blood:
16	chr8:124428663..124430757-chr8:124778757..124780951,2	K562	blood:
17	chr16:27322814..27325675-chr8:124780748..124782249,2	MCF-7	breast:
18	chr1:91487030..91487641-chr8:124780507..124781153,2	Hela-S3	cervix:
19	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
20	chr8:124630464..124632605-chr8:124778589..124780623,2	MCF-7	breast:
21	chr8:124779079..124779807-chr8:125452576..125453383,2	MCF-7	breast:
22	chr8:124781412..124783619-chr8:124810704..124812373,2	K562	blood:
23	chr8:124740454..124743315-chr8:124777092..124780080,2	MCF-7	breast:
24	chr8:124748655..124751535-chr8:124779405..124781112,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM91A1	TF binding region
FAM91A1	CpG island
ENSG00000176510	chromatin interactions
ENSG00000122482	chromatin interactions
ENSG00000093144	chromatin interactions
ENSG00000165156	chromatin interactions
ENSG00000104537	chromatin interactions
ENSG00000176853	chromatin interactions
ENSG00000077238	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000213557	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000156802	chromatin interactions
ENSG00000156795	chromatin interactions
ENSG00000108953	chromatin interactions
ENSG00000147687	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544820942	chr8:124779314-124779315	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs58870794	chr8:124779322-124779323	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184369624	chr8:124779337-124779338	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs151177135	chr8:124779363-124779364	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs71516718	chr8:124779434-124779435	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs140180612	chr8:124779491-124779492	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs189706833	chr8:124779495-124779496	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs181349510	chr8:124779496-124779497	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs576589907	chr8:124779526-124779527	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs570376849	chr8:124779532-124779533	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs7387172	chr8:124779607-124779608	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76931062	chr8:124779637-124779638	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs545585242	chr8:124779665-124779666	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs566299896	chr8:124779715-124779716	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs79956776	chr8:124779747-124779748	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs534801825	chr8:124779798-124779799	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs548710635	chr8:124779799-124779800	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs562587919	chr8:124779820-124779821	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs568317644	chr8:124779827-124779828	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs569506329	chr8:124779845-124779846	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs537058670	chr8:124779854-124779855	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs565294201	chr8:124779866-124779867	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs556007567	chr8:124779871-124779872	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs564150189	chr8:124779874-124779875	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs369172017	chr8:124779943-124779944	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs575908628	chr8:124779986-124779987	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs538581096	chr8:124780083-124780084	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs532994164	chr8:124780115-124780116	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs368395173	chr8:124780158-124780159	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs184992695	chr8:124780183-124780184	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs4355754	chr8:124780188-124780189	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs34106546	chr8:124780209-124780210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs557974571	chr8:124780214-124780215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs561045687	chr8:124780215-124780216	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs11987639	chr8:124780247-124780248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533065748	chr8:124780260-124780261	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs563302762	chr8:124780262-124780263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs532841585	chr8:124780303-124780304	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs552948282	chr8:124780346-124780347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs35420592	chr8:124780387-124780388	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528689029	chr8:124780525-124780526	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs548353107	chr8:124780547-124780548	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs568557812	chr8:124780563-124780564	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs537021882	chr8:124780570-124780571	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs189117010	chr8:124780585-124780586	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs570551405	chr8:124780604-124780605	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs538541105	chr8:124780630-124780631	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs558813877	chr8:124780694-124780695	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs572105230	chr8:124780726-124780727	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs369021625	chr8:124780737-124780738	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
2	chr8:124775800-124779600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:124776000-124779800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:124776000-124779800	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:124776000-124780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:124776200-124779400	Weak transcription	HMEC	breast
7	chr8:124776200-124779600	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:124778000-124779800	Enhancers	Fetal Intestine Small	intestine
9	chr8:124778400-124780000	Weak transcription	Fetal Heart	heart
10	chr8:124778600-124779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:124778600-124779600	Weak transcription	K562	blood
12	chr8:124778600-124779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:124778600-124779800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:124778600-124780000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:124778800-124779800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:124778800-124779800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:124778800-124779800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:124778800-124779800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:124778800-124780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:124778800-124780000	Weak transcription	Psoas Muscle	Psoas
21	chr8:124778800-124780000	Flanking Active TSS	HepG2	liver
22	chr8:124779000-124779400	Weak transcription	Liver	Liver
23	chr8:124779200-124779600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:124779200-124779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:124779200-124779600	Weak transcription	Brain Substantia Nigra	brain
26	chr8:124779200-124779600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:124779200-124779800	Weak transcription	Brain Anterior Caudate	brain
28	chr8:124779200-124779800	Active TSS	Stomach Smooth Muscle	stomach
29	chr8:124779200-124780000	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:124779200-124780000	Enhancers	Small Intestine	intestine
31	chr8:124779400-124779800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr8:124779400-124779800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:124779400-124779800	Bivalent Enhancer	Dnd41	blood
34	chr8:124779400-124779800	Enhancers	HMEC	breast
35	chr8:124779400-124779800	Enhancers	NHEK	skin
36	chr8:124779400-124780000	Enhancers	Liver	Liver
37	chr8:124779600-124779800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:124779600-124779800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr8:124779600-124779800	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr8:124779600-124779800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:124779600-124779800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:124779600-124779800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:124779600-124779800	Enhancers	Adipose Nuclei	Adipose
44	chr8:124779600-124779800	Enhancers	Brain Substantia Nigra	brain
45	chr8:124779600-124779800	Enhancers	Colon Smooth Muscle	Colon
46	chr8:124779600-124779800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:124779600-124779800	Enhancers	Fetal Kidney	kidney
48	chr8:124779600-124779800	Enhancers	Fetal Stomach	stomach
49	chr8:124779600-124779800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:124779600-124779800	Enhancers	HUVEC	blood vessel

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