Variant report

Variant	rs57505845
Chromosome Location	chr7:13138833-13138834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:13138663-13139092	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:13138769-13139150	U87	brain:	n/a	n/a
3	FOS	chr7:13138801-13139223	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:13138816-13139201	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr7:13138792-13139170	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr7:13138800-13139155	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:13138761-13139142	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:13138823-13139128	HepG2	liver:	n/a	n/a
9	FOXA1	chr7:13138774-13139191	HepG2	liver:	n/a	n/a
10	MYC	chr7:13138820-13139215	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr7:13138565-13139215	MCF10A-Er-Src	breast:	n/a	n/a
12	USF2	chr7:13138791-13138991	HepG2	liver:	n/a	n/a
13	JUND	chr7:13138830-13139129	HepG2	liver:	n/a	chr7:13139005-13139016
14	BHLHE40	chr7:13138780-13139161	HepG2	liver:	n/a	n/a
15	CEBPB	chr7:13138823-13139120	Hela-S3	cervix:	n/a	n/a
16	FOXA2	chr7:13138828-13139249	A549	lung:	n/a	n/a
17	CEBPB	chr7:13138810-13139178	IMR90	lung:	n/a	n/a
18	KAP1	chr7:13138743-13139189	HEK293	kidney:	n/a	n/a
19	REST	chr7:13138817-13139194	MCF-7	breast:	n/a	n/a
20	EP300	chr7:13138777-13139195	HepG2	liver:	n/a	n/a
21	FOXA1	chr7:13138769-13139247	HepG2	liver:	n/a	n/a
22	FOSL2	chr7:13138811-13139190	HepG2	liver:	n/a	n/a
23	FOS	chr7:13138801-13139201	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA1	chr7:13138788-13139224	HepG2	liver:	n/a	n/a
25	FOXA1	chr7:13138701-13139284	HepG2	liver:	n/a	n/a
26	FOS	chr7:13138803-13139221	MCF10A-Er-Src	breast:	n/a	n/a
27	JUND	chr7:13138810-13139164	K562	blood:	n/a	chr7:13139005-13139016

No.	Distal block	Cell Line	Cell type
1	chr7:13130850..13133041-chr7:13136588..13139070,3	K562	blood:
2	chr7:12726190..12728016-chr7:13138204..13140895,2	K562	blood:
3	chr7:13129497..13132046-chr7:13137053..13139000,2	K562	blood:

Variant related genes	Relation type
ENSG00000229618	TF binding region
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73259901	0.83[AMR][1000 genomes]
rs73261820	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73265552	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv887643	chr7:13086613-13211263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv437536	chr7:13100035-13152162	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1034496	chr7:13102902-13275542	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1030795	chr7:13111069-13242350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1019238	chr7:13129616-13248483	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2764039	chr7:13130069-13224373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1020790	chr7:13130069-13365778	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv887644	chr7:13130646-13220153	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv887645	chr7:13132400-13220153	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv887646	chr7:13137142-13237390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13134600-13143600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:13136200-13143400	Weak transcription	HepG2	liver
3	chr7:13137000-13139600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:13138000-13139200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:13138000-13139200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:13138200-13143400	Weak transcription	Liver	Liver
7	chr7:13138600-13139400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:13138600-13139400	Enhancers	HMEC	breast
9	chr7:13138600-13139600	Enhancers	NHEK	skin
10	chr7:13138800-13139200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:13138800-13139400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:13138800-13139400	Enhancers	A549	lung

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