Variant report

Variant	rs10518798
Chromosome Location	chr2:56218412-56218413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10200020	0.92[AFR][1000 genomes]
rs13387379	1.00[AMR][1000 genomes]
rs13390531	1.00[AMR][1000 genomes]
rs13406874	1.00[AMR][1000 genomes]
rs13426058	0.89[AFR][1000 genomes]
rs17047338	1.00[AMR][1000 genomes]
rs17047413	1.00[AMR][1000 genomes]
rs6734396	1.00[AMR][1000 genomes]
rs6752420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73940374	0.91[AFR][1000 genomes]
rs73940376	0.91[AFR][1000 genomes]
rs73940377	0.91[AFR][1000 genomes]
rs7572112	0.86[YRI][hapmap]
rs919719	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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56214600-56218800	Weak transcription	Osteobl	bone
2	chr2:56214600-56219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:56216200-56218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56217000-56223200	Enhancers	HUVEC	blood vessel
5	chr2:56217200-56222800	Weak transcription	Pancreas	Pancrea
6	chr2:56218000-56219600	Weak transcription	Aorta	Aorta
7	chr2:56218000-56220400	Enhancers	HSMMtube	muscle
8	chr2:56218000-56222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:56218400-56218600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:56218400-56218800	Weak transcription	A549	lung
11	chr2:56218400-56221000	Enhancers	Hela-S3	cervix
12	chr2:56218400-56221200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:56218400-56222200	Enhancers	HSMM	muscle
14	chr2:56218400-56223000	Enhancers	Muscle Satellite Cultured Cells	--

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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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