Variant report

Variant	rs4667292
Chromosome Location	chr2:190490538-190490539
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1437887	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28454062	0.97[ASN][1000 genomes]
rs3860492	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59901914	0.87[ASN][1000 genomes]
rs6735087	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735185	0.87[ASN][1000 genomes]
rs7587662	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190479000-190503800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:190484000-190490600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:190484400-190493800	Weak transcription	A549	lung
4	chr2:190484600-190494400	Weak transcription	HUVEC	blood vessel
5	chr2:190486200-190494400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:190487200-190490600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:190487400-190494000	Weak transcription	Stomach Mucosa	stomach
8	chr2:190488200-190494000	Weak transcription	Ovary	ovary
9	chr2:190489000-190490800	Enhancers	K562	blood
10	chr2:190489400-190491800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:190489600-190490600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:190489600-190494200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:190489600-190494200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:190489800-190490800	Weak transcription	Primary T cells from cord blood	blood
15	chr2:190489800-190493600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:190489800-190494200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:190490200-190494000	Weak transcription	Hela-S3	cervix
18	chr2:190490400-190491800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:190490400-190492000	Enhancers	Primary T helper naive cells from peripheral 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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