Variant report

Variant	rs4246644
Chromosome Location	chr2:231429864-231429865
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13418392	0.85[AFR][1000 genomes]
rs1616896	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1649912	0.91[ASN][1000 genomes]
rs1649918	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678156	0.91[ASN][1000 genomes]
rs1678183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2059755	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192837	0.82[AFR][1000 genomes]
rs62195513	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6711773	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6738799	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6759652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875949	chr2:231407663-231434272	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	nsv875950	chr2:231413681-231434272	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv528220	chr2:231414688-231433237	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv460120	chr2:231414688-231433237	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv584674	chr2:231414688-231433237	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	nsv875951	chr2:231414688-231434272	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
9	nsv875952	chr2:231415189-231434272	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
10	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv875954	chr2:231421531-231441828	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv20995	chr2:231429759-231430386	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231401000-231430200	Weak transcription	Pancreas	Pancrea
2	chr2:231429000-231430600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:231429000-231430600	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:231429400-231430200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:231429400-231430600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:231429400-231430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:231429400-231431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:231429600-231430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:231429600-231430400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:231429600-231430400	Enhancers	Fetal Thymus	thymus
11	chr2:231429600-231430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:231429800-231430200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:231429800-231430600	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:231429800-231430600	Enhancers	GM12878-XiMat	blood
15	chr2:231429800-231431000	Enhancers	Primary B cells from cord blood	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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