Variant report

Variant	rs4317262
Chromosome Location	chr4:57999775-57999776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10029224	1.00[AMR][1000 genomes]
rs10029500	1.00[AMR][1000 genomes]
rs4242006	1.00[AMR][1000 genomes]
rs4262036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4326070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4346709	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4504318	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4515224	1.00[AMR][1000 genomes]
rs4579185	1.00[AMR][1000 genomes]
rs4590105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4600977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865184	1.00[AMR][1000 genomes]
rs4865185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865186	1.00[AMR][1000 genomes]
rs4865190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554415	1.00[AMR][1000 genomes]
rs6554416	1.00[AMR][1000 genomes]
rs6554417	1.00[AMR][1000 genomes]
rs6810409	1.00[AMR][1000 genomes]
rs6832133	1.00[AMR][1000 genomes]
rs6839914	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6850578	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9992230	0.96[AFR][1000 genomes];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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv594207	chr4:57987433-58098554	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:57996800-57999800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:57997400-57999800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:57998000-57999800	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:57998000-58000000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:57998600-57999800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:57998800-58002600	Weak transcription	HSMM	muscle
7	chr4:57999000-58002200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:57999000-58002400	Weak transcription	NH-A	brain
9	chr4:57999000-58002600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:57999200-58002200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:57999200-58002200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:57999200-58002200	Weak transcription	NHEK	skin
13	chr4:57999200-58002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:57999200-58002400	Weak transcription	HSMMtube	muscle
15	chr4:57999200-58002400	Weak transcription	HUVEC	blood vessel
16	chr4:57999400-58002000	Weak transcription	HMEC	breast
17	chr4:57999400-58002400	Weak transcription	Osteobl	bone

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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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