Variant report

Variant	rs16889994
Chromosome Location	chr8:118623576-118623577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10095593	1.00[AMR][1000 genomes]
rs10096601	1.00[AMR][1000 genomes]
rs10100736	1.00[AMR][1000 genomes]
rs10105995	1.00[AMR][1000 genomes]
rs10107653	1.00[AMR][1000 genomes]
rs1489405	1.00[AMR][1000 genomes]
rs16889760	1.00[AMR][1000 genomes]
rs16889831	1.00[AMR][1000 genomes]
rs16889924	1.00[AMR][1000 genomes]
rs16892788	1.00[AMR][1000 genomes]
rs2171717	1.00[AMR][1000 genomes]
rs28397875	1.00[AMR][1000 genomes]
rs28439173	1.00[AMR][1000 genomes]
rs28442252	1.00[AMR][1000 genomes]
rs28492056	1.00[AMR][1000 genomes]
rs28664811	1.00[AMR][1000 genomes]
rs28665357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28757759	1.00[AMR][1000 genomes]
rs57987063	1.00[AMR][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1028387	chr8:118602105-118640162	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118616000-118627400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:118616000-118630400	Weak transcription	Aorta	Aorta
3	chr8:118620400-118623800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:118620600-118623800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:118620800-118623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:118620800-118623600	Enhancers	NH-A	brain
7	chr8:118620800-118623800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:118620800-118623800	Enhancers	HMEC	breast
9	chr8:118620800-118623800	Enhancers	NHDF-Ad	bronchial
10	chr8:118620800-118623800	Enhancers	Osteobl	bone
11	chr8:118621400-118623600	Enhancers	NHEK	skin
12	chr8:118622000-118623600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:118622000-118627200	Weak transcription	HSMMtube	muscle
14	chr8:118622000-118627400	Weak transcription	NHLF	lung
15	chr8:118622600-118628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:118622800-118623600	Enhancers	A549	lung
17	chr8:118623000-118627200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:118623000-118627200	Weak transcription	Hela-S3	cervix
19	chr8:118623200-118627200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:118623200-118627600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:118623400-118627200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:118623400-118627200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:118623400-118627200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:118623400-118627200	Weak transcription	HSMM	muscle
25	chr8:118623400-118627400	Weak transcription	HepG2	liver
26	chr8:118623400-118627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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