Variant report

Variant	rs12831586
Chromosome Location	chr12:22318455-22318456
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11046329	0.91[ASN][1000 genomes]
rs2111353	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2955495	0.85[ASN][1000 genomes]
rs36064966	0.85[ASN][1000 genomes]
rs9783526	0.85[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	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22317600-22318800	Enhancers	Primary T cells from cord blood	blood
2	chr12:22317800-22318600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:22317800-22318600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr12:22318000-22322200	Weak transcription	Fetal Thymus	thymus
5	chr12:22318200-22322200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:22318200-22322400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:22318400-22322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:22318400-22322200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:22318400-22322200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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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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