Variant report

Variant	rs57688729
Chromosome Location	chr8:49054002-49054003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11991972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114205	1.00[AMR][1000 genomes]
rs12114564	1.00[AMR][1000 genomes]
rs4304348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4546687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4546688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4609219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4637865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55708513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55770276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55956950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56102090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57834756	1.00[AMR][1000 genomes]
rs58045776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58175922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58431112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58555026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59517761	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59634313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60463191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61602855	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678243	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678259	1.00[AMR][1000 genomes]
rs7465660	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49050000-49056400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:49050200-49055800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49051600-49054200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:49051800-49058000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49051800-49065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:49052000-49055800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:49052800-49054400	Enhancers	Fetal Lung	lung
8	chr8:49052800-49054800	Enhancers	HSMM	muscle
9	chr8:49053200-49054600	Enhancers	NH-A	brain
10	chr8:49053400-49054400	Enhancers	NHEK	skin
11	chr8:49053400-49054800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:49053400-49054800	Enhancers	NHDF-Ad	bronchial
13	chr8:49053400-49054800	Enhancers	Osteobl	bone
14	chr8:49053600-49054200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:49053600-49054600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:49053800-49054200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:49053800-49054400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:49053800-49054600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:49054000-49054400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:49054000-49054600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:49054000-49059200	Weak transcription	Adipose Nuclei	Adipose
22	chr8:49054000-49059200	Weak transcription	HMEC	breast

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