Variant report

Variant	rs2117597
Chromosome Location	chr4:54377688-54377689
allele	A/G
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:29)

rs_ID	r²[population]
rs10006662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032378	1.00[AMR][1000 genomes]
rs1435212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1435213	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1435224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2117596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2117598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2137896	1.00[AMR][1000 genomes]
rs2412485	0.85[AFR][1000 genomes]
rs4241975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864464	1.00[AFR][1000 genomes]
rs4864465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864764	1.00[AMR][1000 genomes]
rs4864768	1.00[AMR][1000 genomes]
rs4864769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6824775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6841529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6851386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6853466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6856534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7685118	1.00[AMR][1000 genomes]
rs7687290	1.00[AMR][1000 genomes]
rs7697807	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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv21302	chr4:54375399-54378966	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 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	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
2	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:54355200-54378600	Weak transcription	Fetal Brain Male	brain
4	chr4:54363200-54384200	Weak transcription	Esophagus	oesophagus
5	chr4:54363800-54384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:54366600-54384200	Weak transcription	Pancreas	Pancrea
7	chr4:54372800-54388400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:54374400-54399000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:54374600-54377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:54374800-54393600	Weak transcription	Placenta	Placenta
12	chr4:54375000-54378000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:54375000-54393600	Weak transcription	Gastric	stomach
14	chr4:54375000-54398800	Weak transcription	Fetal Intestine Small	intestine
15	chr4:54376200-54378200	Enhancers	HSMMtube	muscle
16	chr4:54377600-54384400	Weak transcription	Right Atrium	heart
17	chr4:54377600-54412200	Weak transcription	Aorta	Aorta

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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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