Variant report

Variant	rs7571762
Chromosome Location	chr2:47024793-47024794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12467313	0.92[ASN][1000 genomes]
rs12474054	0.80[EUR][1000 genomes]
rs13402481	0.90[ASN][1000 genomes]
rs1348788	0.94[ASN][1000 genomes]
rs1348789	0.94[ASN][1000 genomes]
rs4952848	0.80[ASN][1000 genomes]
rs4952849	0.80[ASN][1000 genomes]
rs4952850	0.81[ASN][1000 genomes]
rs4953422	0.82[ASN][1000 genomes]
rs57891036	0.94[ASN][1000 genomes]
rs6544924	0.80[ASN][1000 genomes]
rs6544927	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714451	0.80[ASN][1000 genomes]
rs6725880	0.80[ASN][1000 genomes]
rs6733395	0.94[ASN][1000 genomes]
rs7568137	0.80[ASN][1000 genomes]
rs7577004	0.81[ASN][1000 genomes]
rs7579692	0.81[ASN][1000 genomes]
rs9967800	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47009800-47025200	Weak transcription	Right Ventricle	heart
2	chr2:47019400-47029200	Weak transcription	Aorta	Aorta
3	chr2:47021400-47032600	Weak transcription	Pancreas	Pancrea
4	chr2:47021800-47027400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:47022200-47026400	Enhancers	NHDF-Ad	bronchial
6	chr2:47022200-47031000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:47022800-47025200	Weak transcription	HMEC	breast
8	chr2:47023200-47025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:47023400-47027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:47023600-47024800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:47023800-47025000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:47023800-47028200	Enhancers	NHLF	lung
13	chr2:47024000-47025000	Weak transcription	Osteobl	bone
14	chr2:47024000-47025200	Weak transcription	Spleen	Spleen
15	chr2:47024200-47025400	Enhancers	HSMM	muscle
16	chr2:47024600-47027200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:47024600-47029200	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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