Variant report

Variant	rs2710585
Chromosome Location	chr4:126290973-126290974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10012726	1.00[AMR][1000 genomes]
rs10029125	1.00[AMR][1000 genomes]
rs11733424	1.00[AMR][1000 genomes]
rs11942648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12711125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1396700	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1509288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2055768	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2102461	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2457262	1.00[AMR][1000 genomes]
rs2663253	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2663258	1.00[AMR][1000 genomes]
rs2663262	1.00[AMR][1000 genomes]
rs2663284	1.00[AMR][1000 genomes]
rs2710537	1.00[AMR][1000 genomes]
rs2710565	1.00[AMR][1000 genomes]
rs2710577	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710581	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710588	1.00[AMR][1000 genomes]
rs28470542	1.00[AMR][1000 genomes]
rs28871071	1.00[AMR][1000 genomes]
rs4834029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844307	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906793	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906794	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs925244	1.00[AMR][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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126282600-126293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:126289600-126291000	Active TSS	Stomach Smooth Muscle	stomach
3	chr4:126290200-126291000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:126290200-126291000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:126290200-126291600	Enhancers	Fetal Lung	lung
6	chr4:126290400-126291000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:126290400-126291000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:126290400-126291000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:126290400-126294200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:126290400-126294800	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:126290400-126309200	Weak transcription	HSMM	muscle
12	chr4:126290600-126291000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:126290600-126291200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:126290600-126291600	Enhancers	Osteobl	bone
15	chr4:126290600-126291800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:126290600-126298400	Weak transcription	NHDF-Ad	bronchial
17	chr4:126290600-126303400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:126290800-126291000	Enhancers	Aorta	Aorta
19	chr4:126290800-126291400	Enhancers	HUVEC	blood vessel
20	chr4:126290800-126317600	Weak transcription	Fetal Brain Male	brain

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