Variant report

Variant	rs2997716
Chromosome Location	chr9:72646687-72646688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10511977	0.83[EUR][1000 genomes]
rs12352875	0.81[EUR][1000 genomes]
rs3015227	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72709188	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr9:72637600-72649200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:72645000-72647000	Enhancers	NHEK	skin
3	chr9:72645400-72646800	Enhancers	Osteobl	bone
4	chr9:72645600-72646800	Enhancers	HMEC	breast
5	chr9:72645800-72646800	Enhancers	NHDF-Ad	bronchial
6	chr9:72645800-72647400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:72646000-72646800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:72646200-72646800	Enhancers	HSMMtube	muscle
9	chr9:72646400-72646800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:72646400-72646800	Enhancers	HUVEC	blood vessel
11	chr9:72646400-72646800	Enhancers	NH-A	brain
12	chr9:72646400-72647000	Enhancers	HSMM	muscle
13	chr9:72646400-72647600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:72646400-72650400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:72646600-72646800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:72646600-72646800	Enhancers	Hela-S3	cervix
17	chr9:72646600-72650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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Input of quick search could be:

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

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