Variant report

Variant	rs4762885
Chromosome Location	chr12:22299637-22299638
allele	C/T
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:19)

rs_ID	r²[population]
rs10770889	1.00[AMR][1000 genomes]
rs2080555	1.00[AMR][1000 genomes]
rs2098439	1.00[AMR][1000 genomes]
rs2193383	1.00[AMR][1000 genomes]
rs2909074	1.00[AMR][1000 genomes]
rs2909081	1.00[AMR][1000 genomes]
rs2955493	1.00[AMR][1000 genomes]
rs4762731	1.00[AMR][1000 genomes]
rs4762883	1.00[AMR][1000 genomes]
rs4762884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6487283	1.00[AMR][1000 genomes]
rs6487284	1.00[AMR][1000 genomes]
rs7294698	1.00[AMR][1000 genomes]
rs7297003	1.00[AMR][1000 genomes]
rs7308269	1.00[AMR][1000 genomes]
rs7316435	1.00[AMR][1000 genomes]
rs7486136	1.00[AMR][1000 genomes]
rs759585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs975238	1.00[AMR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22299000-22300400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:22299200-22300200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:22299200-22300200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr12:22299200-22300400	Enhancers	Primary T cells from cord blood	blood
5	chr12:22299200-22300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:22299200-22300400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:22299200-22300400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:22299200-22300600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:22299200-22300800	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:22299200-22300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:22299400-22299800	Enhancers	Fetal Thymus	thymus
12	chr12:22299400-22300200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:22299400-22300400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:22299400-22300400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:22299600-22300000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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