Variant report

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10161447	0.86[EUR][1000 genomes]
rs10506258	0.87[AMR][1000 genomes]
rs10785535	0.85[AMR][1000 genomes]
rs10785536	0.89[EUR][1000 genomes]
rs10785537	0.89[EUR][1000 genomes]
rs10785538	0.87[AMR][1000 genomes]
rs11504491	0.84[EUR][1000 genomes]
rs11833874	0.84[EUR][1000 genomes]
rs12227370	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12316579	0.86[EUR][1000 genomes]
rs1376126	0.81[AMR][1000 genomes]
rs17095127	0.89[EUR][1000 genomes]
rs1876241	0.82[AMR][1000 genomes]
rs2055675	0.86[EUR][1000 genomes]
rs2055676	0.86[EUR][1000 genomes]
rs2408083	0.89[EUR][1000 genomes]
rs2408084	0.87[AMR][1000 genomes]
rs2408085	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2465110	0.81[AMR][1000 genomes]
rs2658954	0.82[AMR][1000 genomes]
rs2710455	0.86[EUR][1000 genomes]
rs2710460	0.86[EUR][1000 genomes]
rs2710462	0.84[EUR][1000 genomes]
rs4499065	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768577	0.86[EUR][1000 genomes]
rs56892258	0.84[EUR][1000 genomes]
rs57190502	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7312377	0.83[AMR][1000 genomes]
rs74079970	0.89[EUR][1000 genomes]
rs7957052	0.84[EUR][1000 genomes]
rs7957160	0.84[EUR][1000 genomes]
rs7971834	0.84[EUR][1000 genomes]
rs7973268	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45207000-45220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:45211800-45224600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45214000-45224000	Weak transcription	Fetal Brain Female	brain
6	chr12:45214600-45220200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45216400-45219800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:45217400-45220200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:45217800-45220200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:45218200-45220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:45219200-45220400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:45219400-45220000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:45219400-45221600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:45219600-45219800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:45219600-45221600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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