Variant report

Variant	rs215386
Chromosome Location	chr12:47762284-47762285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2040643	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215378	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs215379	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs215380	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs215381	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs215384	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs215397	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47755800-47763000	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47756800-47763200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:47756800-47763200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:47759000-47762800	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:47759200-47763400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:47759800-47763200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:47760200-47763200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:47760400-47762800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:47760400-47763000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:47761200-47762800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr12:47761200-47763400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:47761400-47762400	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr12:47761600-47762600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:47761600-47762800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:47762200-47762400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:47762200-47764200	Enhancers	Fetal Thymus	thymus

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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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