Variant report

Variant	rs62243907
Chromosome Location	chr3:46176632-46176633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10433607	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12107600	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13320534	0.84[ASN][1000 genomes]
rs6807854	0.81[ASN][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr3:46168800-46178200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46170000-46177200	Enhancers	Fetal Thymus	thymus
3	chr3:46173000-46176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:46173800-46184400	Weak transcription	Spleen	Spleen
5	chr3:46174000-46202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:46174200-46183400	Weak transcription	Primary B cells from cord blood	blood
7	chr3:46174400-46183200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:46175000-46177400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:46175400-46177000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:46176200-46177000	Enhancers	Placenta	Placenta
11	chr3:46176200-46177400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr3:46176400-46177600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:46176600-46177400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:46176600-46177400	Enhancers	GM12878-XiMat	blood

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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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