Variant report

Variant	rs7822666
Chromosome Location	chr8:10570205-10570206
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	GTF2F1	chr8:10570124-10571444	Hela-S3	cervix:	n/a	n/a
2	ZKSCAN1	chr8:10570088-10571606	Hela-S3	cervix:	n/a	n/a
3	EP300	chr8:10570130-10571185	Hela-S3	cervix:	n/a	n/a
4	USF2	chr8:10570107-10571183	Hela-S3	cervix:	n/a	n/a
5	FOS	chr8:10570112-10570365	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr8:10570091-10570397	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:10569987-10571453	MCF10A-Er-Src	breast:	n/a	chr8:10571288-10571299
8	STAT3	chr8:10570197-10570307	MCF10A-Er-Src	breast:	n/a	chr8:10570205-10570214
9	RCOR1	chr8:10570190-10571698	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr8:10569989-10571222	Hela-S3	cervix:	n/a	chr8:10570205-10570214
11	CEBPB	chr8:10570140-10571670	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr8:10569994-10570524	MCF10A-Er-Src	breast:	n/a	chr8:10570205-10570214
13	MYC	chr8:10569960-10570242	MCF10A-Er-Src	breast:	n/a	n/a
14	BRCA1	chr8:10570054-10571623	Hela-S3	cervix:	n/a	n/a
15	SMARCC1	chr8:10569960-10571737	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr8:10570083-10570785	K562	blood:	n/a	n/a
17	FOS	chr8:10569995-10570416	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RP1L1	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10090558	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10094968	0.87[ASN][1000 genomes]
rs10097577	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10098956	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10099100	0.88[ASN][1000 genomes]
rs10103202	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10107820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10110723	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10216539	1.00[JPT][hapmap]
rs10794714	0.95[EUR][1000 genomes]
rs11250060	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs1139066	0.88[ASN][1000 genomes]
rs1139843	1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11779336	1.00[CHD][hapmap]
rs11783803	1.00[CHD][hapmap]
rs11784335	0.88[ASN][1000 genomes]
rs11990311	0.87[ASN][1000 genomes]
rs12056524	0.94[EUR][1000 genomes]
rs12056623	0.95[EUR][1000 genomes]
rs12680711	0.87[ASN][1000 genomes]
rs17152410	1.00[CHD][hapmap]
rs28488675	0.81[ASN][1000 genomes]
rs28548758	0.94[ASN][1000 genomes]
rs4840518	1.00[CHD][hapmap]
rs4841425	0.92[EUR][1000 genomes]
rs4841426	0.94[EUR][1000 genomes]
rs4841427	0.95[EUR][1000 genomes]
rs4841429	0.95[EUR][1000 genomes]
rs4841430	0.89[EUR][1000 genomes]
rs4841449	1.00[CHD][hapmap]
rs4841455	1.00[CHD][hapmap]
rs57949601	0.95[EUR][1000 genomes]
rs58772184	0.88[ASN][1000 genomes]
rs59276210	0.93[ASN][1000 genomes]
rs60270701	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60410697	1.00[ASN][1000 genomes]
rs60672851	0.93[ASN][1000 genomes]
rs60837490	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601505	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601506	0.87[EUR][1000 genomes]
rs6601507	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601508	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601509	1.00[CEU][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs6983956	1.00[CHD][hapmap]
rs6984094	1.00[CHD][hapmap]
rs6999206	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7002378	0.80[ASN][1000 genomes]
rs7003456	1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7006325	0.87[ASN][1000 genomes]
rs7012879	1.00[CHD][hapmap]
rs7350075	1.00[CHB][hapmap]
rs73530796	0.87[ASN][1000 genomes]
rs73532605	0.87[ASN][1000 genomes]
rs73532619	0.93[ASN][1000 genomes]
rs73532620	0.93[ASN][1000 genomes]
rs73532622	0.93[ASN][1000 genomes]
rs73536579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541440	0.80[ASN][1000 genomes]
rs73541442	0.80[ASN][1000 genomes]
rs73541445	0.80[ASN][1000 genomes]
rs73541496	0.81[ASN][1000 genomes]
rs7815184	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7820334	1.00[ASN][1000 genomes]
rs7827595	0.95[EUR][1000 genomes]
rs7827623	1.00[JPT][hapmap]
rs7828426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7836972	0.92[EUR][1000 genomes]
rs7840510	0.95[EUR][1000 genomes]
rs891560	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10567400-10570400	Enhancers	Esophagus	oesophagus
2	chr8:10567400-10571800	Enhancers	HMEC	breast
3	chr8:10567800-10571600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:10567800-10572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10568800-10571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10568800-10571800	Enhancers	HUVEC	blood vessel
7	chr8:10568800-10572600	Weak transcription	Right Atrium	heart
8	chr8:10568800-10573400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:10569000-10571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:10569000-10571400	Weak transcription	Spleen	Spleen
11	chr8:10569000-10572000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:10569000-10573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:10569400-10571600	Weak transcription	Left Ventricle	heart
14	chr8:10569600-10570800	Weak transcription	Lung	lung
15	chr8:10569600-10573400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:10569800-10570800	Enhancers	K562	blood
17	chr8:10570000-10570400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:10570000-10570600	Enhancers	A549	lung
19	chr8:10570000-10570800	Enhancers	Adipose Nuclei	Adipose
20	chr8:10570200-10570600	Flanking Active TSS	NHEK	skin
21	chr8:10570200-10571400	Flanking Active TSS	Hela-S3	cervix
22	chr8:10570200-10572200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:10570200-10575000	Enhancers	Duodenum Mucosa	Duodenum

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