Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1020983	1.00[ASN][1000 genomes]
rs1122332	1.00[ASN][1000 genomes]
rs12549637	1.00[ASN][1000 genomes]
rs1478959	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1614403	1.00[ASN][1000 genomes]
rs1869752	1.00[ASN][1000 genomes]
rs2127174	1.00[ASN][1000 genomes]
rs2445955	1.00[ASN][1000 genomes]
rs2618842	1.00[ASN][1000 genomes]
rs316474	1.00[ASN][1000 genomes]
rs57066430	1.00[ASN][1000 genomes]
rs61602506	1.00[ASN][1000 genomes]
rs62501177	1.00[ASN][1000 genomes]
rs62501179	1.00[ASN][1000 genomes]
rs62501212	1.00[ASN][1000 genomes]
rs62501259	1.00[ASN][1000 genomes]
rs62502695	1.00[ASN][1000 genomes]
rs62502698	1.00[ASN][1000 genomes]
rs62502699	1.00[ASN][1000 genomes]
rs6982332	1.00[ASN][1000 genomes]
rs7009069	0.90[EUR][1000 genomes]
rs7011841	1.00[ASN][1000 genomes]
rs71519826	1.00[ASN][1000 genomes]
rs71519831	1.00[ASN][1000 genomes]
rs71519832	1.00[ASN][1000 genomes]
rs71519833	1.00[ASN][1000 genomes]
rs71519836	1.00[ASN][1000 genomes]
rs7820143	1.00[ASN][1000 genomes]
rs9773479	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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs717920	RPL23AP53	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2144000-2150600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:2145800-2153400	Enhancers	Primary T cells from cord blood	blood
3	chr8:2146200-2152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:2146600-2150200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:2148800-2149600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:2148800-2149800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:2148800-2150200	Weak transcription	Fetal Brain Male	brain
8	chr8:2148800-2150600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:2148800-2150800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:2149000-2151000	Weak transcription	Pancreas	Pancrea
11	chr8:2149200-2149600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:2149200-2150800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:2149400-2149600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:2149400-2149600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:2149400-2149600	Enhancers	Fetal Thymus	thymus
16	chr8:2149400-2149600	Enhancers	Thymus	Thymus
17	chr8:2149400-2150600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:2149400-2151200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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