Variant report

Variant	rs57986359
Chromosome Location	chr2:113698330-113698331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10496443	1.00[AMR][1000 genomes]
rs1143631	1.00[AMR][1000 genomes]
rs17042486	1.00[AMR][1000 genomes]
rs28928296	1.00[AMR][1000 genomes]
rs3783565	1.00[AMR][1000 genomes]
rs6542111	1.00[AMR][1000 genomes]
rs6707608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6722276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726111	1.00[AMR][1000 genomes]
rs6748751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556811	1.00[AMR][1000 genomes]
rs7556903	1.00[AMR][1000 genomes]
rs7590199	1.00[AMR][1000 genomes]
rs7590499	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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv979388	chr2:113696105-113705504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 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	chr2:113694000-113699200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:113697000-113699000	Weak transcription	NHEK	skin
3	chr2:113697000-113699800	Enhancers	Liver	Liver
4	chr2:113697200-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:113697200-113699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:113697400-113699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113697400-113699200	Weak transcription	HMEC	breast
8	chr2:113697400-113699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:113697400-113699600	Weak transcription	Gastric	stomach
10	chr2:113697600-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:113697600-113699400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:113697600-113700400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:113698200-113699800	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:113698200-113700000	Enhancers	Stomach Mucosa	stomach

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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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