Variant report

Variant	rs13261103
Chromosome Location	chr8:10582041-10582042
allele	C/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	chr8:10581292-10582256	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr8:10581418-10582100	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:10581653-10582158	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:10572945..10574994-chr8:10579706..10582412,2	K562	blood:
2	chr8:10581535..10584414-chr8:10592948..10594895,2	MCF-7	breast:
3	chr8:10561128..10563766-chr8:10580957..10583552,2	K562	blood:
4	chr8:10501933..10503647-chr8:10579530..10582148,2	K562	blood:

Variant related genes	Relation type
ENSG00000248896	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10102073	1.00[CHB][hapmap]
rs1052523	1.00[CEU][hapmap]
rs11986744	1.00[ASN][1000 genomes]
rs11990229	1.00[ASN][1000 genomes]
rs11997941	1.00[CHB][hapmap]
rs13259547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13272595	1.00[AFR][1000 genomes]
rs13275368	1.00[CHB][hapmap]
rs13277664	1.00[ASN][1000 genomes]
rs13280573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152399	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152442	1.00[CEU][hapmap]
rs17152492	1.00[CHB][hapmap]
rs2409654	1.00[CHB][hapmap]
rs2409655	1.00[CHB][hapmap]
rs2409656	1.00[CHB][hapmap]
rs2898244	1.00[CHB][hapmap]
rs34836781	1.00[ASN][1000 genomes]
rs34837434	1.00[ASN][1000 genomes]
rs35600556	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35793804	1.00[ASN][1000 genomes]
rs4129653	1.00[CHB][hapmap]
rs4310166	1.00[CHB][hapmap]
rs4532562	1.00[ASN][1000 genomes]
rs6601537	1.00[CHB][hapmap]
rs6601538	1.00[CHB][hapmap]
rs6980549	1.00[ASN][1000 genomes]
rs6981179	1.00[ASN][1000 genomes]
rs6987083	1.00[CHB][hapmap]
rs6989930	1.00[ASN][1000 genomes]
rs6990041	1.00[CEU][hapmap]
rs6993463	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6993632	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6993753	1.00[CHB][hapmap]
rs7001530	1.00[ASN][1000 genomes]
rs7005389	1.00[CHB][hapmap]
rs7009841	1.00[CEU][hapmap]
rs7463228	1.00[CHB][hapmap]
rs7813417	1.00[CHB][hapmap]
rs7822821	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7824708	1.00[ASN][1000 genomes]
rs7824878	1.00[CHB][hapmap]
rs7833599	1.00[CHB][hapmap]
rs7838734	1.00[CHB][hapmap]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs891557	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs934325	1.00[CHB][hapmap]
rs9969476	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
10	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
13	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10572000-10583000	Weak transcription	Liver	Liver
2	chr8:10574800-10584200	Weak transcription	Hela-S3	cervix
3	chr8:10575200-10583000	Weak transcription	Spleen	Spleen
4	chr8:10575600-10583600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10576800-10587200	Weak transcription	Gastric	stomach
6	chr8:10577000-10586000	Weak transcription	Right Atrium	heart
7	chr8:10579800-10582800	Weak transcription	Left Ventricle	heart
8	chr8:10580200-10583000	Weak transcription	Esophagus	oesophagus
9	chr8:10580200-10587200	Weak transcription	Pancreas	Pancrea
10	chr8:10580400-10582800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:10580400-10583000	Weak transcription	Lung	lung
12	chr8:10580600-10582800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:10580600-10585200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:10580600-10586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:10581000-10584000	Genic enhancers	HUVEC	blood vessel
16	chr8:10581600-10584600	Strong transcription	HMEC	breast
17	chr8:10581800-10583200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:10581800-10584200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:10582000-10583000	Weak transcription	Right Ventricle	heart
20	chr8:10582000-10584000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:10582000-10584800	Strong transcription	NHEK	skin

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