Variant report

Variant	rs57190502
Chromosome Location	chr12:45216878-45216879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10161447	0.93[EUR][1000 genomes]
rs10506258	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785535	0.86[AMR][1000 genomes]
rs10785536	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10785537	0.95[EUR][1000 genomes]
rs10785538	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10785540	0.82[EUR][1000 genomes]
rs11182754	0.82[EUR][1000 genomes]
rs11504491	0.90[EUR][1000 genomes]
rs11833874	0.90[EUR][1000 genomes]
rs12227370	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12316579	0.93[EUR][1000 genomes]
rs12818329	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1376126	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1395397	0.80[EUR][1000 genomes]
rs17095127	0.95[EUR][1000 genomes]
rs1857927	0.80[EUR][1000 genomes]
rs1876241	0.83[AMR][1000 genomes]
rs2055675	0.93[EUR][1000 genomes]
rs2055676	0.93[EUR][1000 genomes]
rs2055677	0.80[EUR][1000 genomes]
rs2408083	0.95[EUR][1000 genomes]
rs2408084	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2408085	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465110	0.82[AMR][1000 genomes]
rs2658954	0.83[AMR][1000 genomes]
rs2710453	0.80[EUR][1000 genomes]
rs2710455	0.93[EUR][1000 genomes]
rs2710460	0.93[EUR][1000 genomes]
rs2710462	0.90[EUR][1000 genomes]
rs4300447	0.82[EUR][1000 genomes]
rs4415832	0.88[EUR][1000 genomes]
rs4499065	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768577	0.93[EUR][1000 genomes]
rs4768578	0.83[EUR][1000 genomes]
rs55741117	0.80[EUR][1000 genomes]
rs56892258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312377	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs74079970	0.95[EUR][1000 genomes]
rs7957052	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7957160	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971834	0.90[EUR][1000 genomes]
rs7973268	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7975618	0.82[EUR][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	chr12:45213000-45218200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45214000-45224000	Weak transcription	Fetal Brain Female	brain
7	chr12:45214400-45219400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:45214600-45220200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:45214800-45219200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:45215800-45217400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:45216000-45217800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:45216200-45217600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:45216400-45217200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:45216400-45219800	Weak transcription	Primary T cells from cord blood	blood
15	chr12:45216600-45218800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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