Variant report

Variant	rs2955493
Chromosome Location	chr12:22316426-22316427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

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]
rs4762731	1.00[AMR][1000 genomes]
rs4762883	1.00[AMR][1000 genomes]
rs4762884	1.00[AMR][1000 genomes]
rs4762885	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7316435	1.00[AMR][1000 genomes]
rs7486136	1.00[AMR][1000 genomes]
rs759585	1.00[AMR][1000 genomes]
rs9668238	0.85[AFR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22311800-22316600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:22313800-22316600	Enhancers	Primary T cells from cord blood	blood
3	chr12:22314200-22316600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:22315400-22316600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:22315400-22317000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:22315400-22317200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:22315400-22318200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:22315800-22316800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr12:22315800-22317200	Enhancers	Primary B cells from cord blood	blood
10	chr12:22315800-22317200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:22315800-22318200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:22316200-22317200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:22316200-22317200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:22316200-22317800	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:22316200-22318000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:22316200-22318000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:22316200-22318000	Enhancers	Fetal Thymus	thymus
18	chr12:22316200-22318200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:22316200-22318200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:22316200-22318400	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:22316400-22317400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:22316400-22317600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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