Variant report

Variant	rs7568579
Chromosome Location	chr2:40257960-40257961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1117016	0.91[ASN][1000 genomes]
rs11686249	0.91[ASN][1000 genomes]
rs11690334	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs11903990	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12105254	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12473190	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475578	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12616013	0.95[ASN][1000 genomes]
rs12712680	0.91[ASN][1000 genomes]
rs12986818	0.87[ASN][1000 genomes]
rs13025594	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs17024771	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024886	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17024958	0.81[ASN][1000 genomes]
rs2192724	0.91[ASN][1000 genomes]
rs6705665	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6705905	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6706273	0.85[ASN][1000 genomes]
rs6714077	0.86[ASN][1000 genomes]
rs6719727	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6719947	0.88[ASN][1000 genomes]
rs6727414	0.86[ASN][1000 genomes]
rs6746945	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586183	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7595517	0.88[AMR][1000 genomes]

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	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv962063	chr2:40205436-40263295	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv873901	chr2:40207338-40264861	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv581501	chr2:40256218-40285145	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40255000-40258000	Enhancers	NHDF-Ad	bronchial
2	chr2:40255000-40260400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:40256200-40259400	Weak transcription	NHEK	skin
4	chr2:40256600-40259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:40256800-40259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:40257000-40258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:40257000-40259200	Weak transcription	Fetal Thymus	thymus
8	chr2:40257000-40259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:40257000-40259600	Weak transcription	HSMMtube	muscle
10	chr2:40257000-40261000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:40257200-40258600	Weak transcription	HSMM	muscle
12	chr2:40257200-40258600	Weak transcription	Osteobl	bone
13	chr2:40257200-40259200	Weak transcription	HMEC	breast
14	chr2:40257400-40258400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:40257400-40259200	Weak transcription	Primary monocytes fromperipheralblood	blood

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