Variant report

Variant	rs34504038
Chromosome Location	chr2:181992954-181992955
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:43)

rs_ID	r²[population]
rs11688120	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692430	0.81[EUR][1000 genomes]
rs11692625	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693055	0.85[EUR][1000 genomes]
rs11893772	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11893821	0.98[ASN][1000 genomes]
rs12999974	0.98[ASN][1000 genomes]
rs13004683	0.82[ASN][1000 genomes]
rs13004750	0.84[ASN][1000 genomes]
rs13011738	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011751	0.88[EUR][1000 genomes]
rs13012524	0.88[EUR][1000 genomes]
rs13019038	0.80[ASN][1000 genomes]
rs13020845	0.88[EUR][1000 genomes]
rs13026070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13031518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13033038	0.81[AFR][1000 genomes]
rs13033467	0.98[ASN][1000 genomes]
rs34467063	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34714467	0.98[ASN][1000 genomes]
rs34774580	0.85[EUR][1000 genomes]
rs34825850	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35076700	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35323141	0.94[ASN][1000 genomes]
rs35482602	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543145	0.98[ASN][1000 genomes]
rs35702511	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725888	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55900432	0.98[ASN][1000 genomes]
rs55954384	0.98[ASN][1000 genomes]
rs56692685	0.85[EUR][1000 genomes]
rs59639779	0.90[ASN][1000 genomes]
rs6716261	0.85[EUR][1000 genomes]
rs6719732	0.85[EUR][1000 genomes]
rs6743720	0.88[ASN][1000 genomes]
rs6746347	0.98[ASN][1000 genomes]
rs6759865	0.98[ASN][1000 genomes]
rs72887083	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72888919	0.85[EUR][1000 genomes]
rs7349232	0.84[ASN][1000 genomes]
rs7558428	0.98[ASN][1000 genomes]
rs7581267	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598960	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181990600-181994200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr2:181990600-181995600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:181991400-181993000	Enhancers	Dnd41	blood
4	chr2:181991400-181996000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:181991400-181996200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:181992200-181993600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:181992400-181993200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:181992400-181996000	Weak transcription	Fetal Thymus	thymus
9	chr2:181992600-181993000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr2:181992600-181993000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:181992600-181993400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr2:181992600-181993400	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:181992600-181993600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:181992600-181993600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr2:181992600-181994200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:181992800-181993200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:181992800-181993200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr2:181992800-181993200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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