Variant report

Variant	rs7517804
Chromosome Location	chr1:209740488-209740489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119313	0.87[EUR][1000 genomes]
rs11801272	0.87[EUR][1000 genomes]
rs12402938	0.87[EUR][1000 genomes]
rs12408760	0.86[EUR][1000 genomes]
rs12734177	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2235449	0.87[EUR][1000 genomes]
rs2235452	0.87[EUR][1000 genomes]
rs2235453	0.87[EUR][1000 genomes]
rs2235454	0.87[EUR][1000 genomes]
rs2235455	0.87[EUR][1000 genomes]
rs35104617	0.90[EUR][1000 genomes]
rs35498535	0.86[EUR][1000 genomes]
rs35503098	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35508847	0.87[EUR][1000 genomes]
rs35553417	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55814069	0.89[EUR][1000 genomes]
rs7517839	0.87[EUR][1000 genomes]
rs7553120	0.86[EUR][1000 genomes]
rs9787069	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209734400-209740600	Weak transcription	HSMM	muscle
2	chr1:209738200-209740600	Enhancers	HMEC	breast
3	chr1:209738200-209742000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:209738400-209742000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:209738400-209743000	Weak transcription	Fetal Kidney	kidney
6	chr1:209739000-209741800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:209739200-209741000	Weak transcription	Esophagus	oesophagus
8	chr1:209739200-209741600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:209739400-209740600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:209739400-209740600	Weak transcription	HSMMtube	muscle
11	chr1:209739600-209741600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:209739600-209743000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:209739800-209740600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:209739800-209743000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:209740000-209740600	Enhancers	NHEK	skin
16	chr1:209740200-209740600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:209740200-209741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:209740400-209741200	Enhancers	NH-A	brain

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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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