Variant report

Variant	rs369076362
Chromosome Location	chr7:100317490-100317491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:100317406-100317570	HepG2	liver:	n/a	n/a
2	HNF4A	chr7:100317298-100317704	HepG2	liver:	n/a	chr7:100317467-100317482
3	HNF4A	chr7:100317265-100317735	HepG2	liver:	n/a	chr7:100317467-100317482
4	CTCF	chr7:100317380-100317530	NHDF-neo	bronchial:	n/a	n/a
5	FOXA1	chr7:100317191-100317643	HepG2	liver:	n/a	n/a
6	MXI1	chr7:100317326-100317558	HepG2	liver:	n/a	n/a
7	HNF4A	chr7:100317296-100317699	HepG2	liver:	n/a	chr7:100317467-100317482
8	HDAC2	chr7:100317122-100317663	HepG2	liver:	n/a	n/a
9	SMC3	chr7:100317168-100318210	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr7:100317028-100317720	HepG2	liver:	n/a	n/a
11	RAD21	chr7:100317486-100318022	H1-hESC	embryonic stem cell:	n/a	n/a
12	HNF4G	chr7:100317248-100317689	HepG2	liver:	n/a	chr7:100317437-100317452
13	EP300	chr7:100317135-100317734	HepG2	liver:	n/a	n/a
14	EP300	chr7:100317308-100317553	HepG2	liver:	n/a	n/a
15	TEAD4	chr7:100317166-100317730	HepG2	liver:	n/a	n/a
16	FOXA2	chr7:100317246-100317708	HepG2	liver:	n/a	n/a
17	MYC	chr7:100317424-100317606	HepG2	liver:	n/a	n/a
18	NFIC	chr7:100317220-100317618	HepG2	liver:	n/a	n/a
19	RAD21	chr7:100317354-100317896	HepG2	liver:	n/a	n/a
20	RAD21	chr7:100317315-100318334	SK-N-SH	brain:	n/a	n/a
21	SP1	chr7:100317168-100317754	HepG2	liver:	n/a	n/a
22	HNF4G	chr7:100317267-100317712	HepG2	liver:	n/a	chr7:100317437-100317452
23	RAD21	chr7:100317481-100318032	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:100317095-100318171	SK-N-SH	brain:	n/a	chr7:100318063-100318072
25	CHD2	chr7:100317434-100317533	HepG2	liver:	n/a	n/a
26	BHLHE40	chr7:100317405-100317649	HepG2	liver:	n/a	n/a
27	MYBL2	chr7:100317154-100317778	HepG2	liver:	n/a	n/a
28	RXRA	chr7:100317291-100317805	HepG2	liver:	n/a	n/a
29	FOXA1	chr7:100317133-100317716	HepG2	liver:	n/a	n/a
30	ARID3A	chr7:100317386-100317494	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:100317354-100319218	HepG2	liver:	n/a	n/a
32	CTCF	chr7:100317416-100318180	A549	lung:	n/a	chr7:100318063-100318072
33	HEY1	chr7:100317196-100317674	HepG2	liver:	n/a	n/a
34	NR2F2	chr7:100317090-100319550	HepG2	liver:	n/a	n/a
35	CEBPB	chr7:100317405-100317615	HepG2	liver:	n/a	n/a
36	SMC3	chr7:100317468-100317858	HepG2	liver:	n/a	n/a
37	MAX	chr7:100317046-100319536	HepG2	liver:	n/a	chr7:100318766-100318773 chr7:100318351-100318361
38	FOXA1	chr7:100317250-100317596	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100315279..100318194-chr7:100320126..100322658,3	K562	blood:
2	chr7:100315107..100317886-chr7:100488286..100489805,2	MCF-7	breast:
3	chr7:100302553..100308135-chr7:100314195..100322207,16	MCF-7	breast:
4	chr7:100311308..100312814-chr7:100315076..100317499,2	K562	blood:
5	chr7:100302051..100306591-chr7:100312993..100321692,11	MCF-7	breast:
6	chr7:100314177..100318194-chr7:100318771..100321626,3	K562	blood:
7	chr7:100315257..100318069-chr7:100320272..100323098,2	MCF-7	breast:
8	chr7:100317313..100318403-chr7:100449405..100450273,4	MCF-7	breast:

No data

Variant related genes	Relation type
EPO	TF binding region
ENSG00000236305	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv3410635	chr7:100317416-100319614	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100305000-100318000	Weak transcription	Right Atrium	heart
2	chr7:100305200-100318400	Weak transcription	Gastric	stomach
3	chr7:100316600-100317800	Weak transcription	Esophagus	oesophagus
4	chr7:100316600-100318400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:100316600-100318400	Enhancers	Liver	Liver
6	chr7:100316800-100318200	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr7:100317000-100318000	Flanking Active TSS	HepG2	liver
8	chr7:100317200-100317800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100317200-100317800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
10	chr7:100317200-100319400	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr7:100317400-100317600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr7:100317400-100318000	Bivalent Enhancer	Placenta	Placenta
13	chr7:100317400-100318200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
14	chr7:100317400-100318800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links