Variant report

Variant	rs7588812
Chromosome Location	chr2:67675917-67675918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57865584	1.00[EUR][1000 genomes]
rs6546295	1.00[EUR][1000 genomes]
rs6546305	1.00[EUR][1000 genomes]
rs6710320	1.00[EUR][1000 genomes]
rs6730868	1.00[EUR][1000 genomes]
rs6736634	1.00[EUR][1000 genomes]
rs6736949	1.00[EUR][1000 genomes]
rs72897783	1.00[EUR][1000 genomes]
rs72899940	1.00[EUR][1000 genomes]
rs72901900	1.00[EUR][1000 genomes]
rs7580904	1.00[EUR][1000 genomes]
rs7599464	1.00[EUR][1000 genomes]
rs7606755	1.00[EUR][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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3418230	chr2:67674648-67676646	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67664600-67678400	Weak transcription	Aorta	Aorta
2	chr2:67674200-67678600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:67674400-67678800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:67674600-67678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:67674600-67678400	Weak transcription	NH-A	brain
6	chr2:67674800-67676000	Weak transcription	Hela-S3	cervix
7	chr2:67675000-67678400	Weak transcription	A549	lung
8	chr2:67675200-67676000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:67675600-67676400	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:67675600-67676600	Enhancers	Fetal Heart	heart
11	chr2:67675600-67676800	Enhancers	NHEK	skin
12	chr2:67675800-67676800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:67675800-67676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:67675800-67677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:67675800-67677000	Enhancers	HMEC	breast

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

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