Variant report

Variant	rs1636294
Chromosome Location	chr7:22039719-22039720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1175003	0.85[EUR][1000 genomes]
rs12537372	0.95[EUR][1000 genomes]
rs1636291	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv870325	chr7:21979039-22120493	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22033800-22040400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:22036400-22039800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:22037000-22040400	Weak transcription	HMEC	breast
4	chr7:22037000-22040600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:22037000-22040600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:22037200-22039800	Weak transcription	NHEK	skin
7	chr7:22037200-22040400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:22037200-22040400	Weak transcription	HUVEC	blood vessel
9	chr7:22037200-22040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:22039600-22039800	Enhancers	Osteobl	bone
11	chr7:22039600-22040200	Enhancers	Primary neutrophils fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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