Variant report

Variant	rs1395397
Chromosome Location	chr12:45243714-45243715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10161447	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506258	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10785535	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10785536	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785537	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785538	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10785540	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504491	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11524561	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11833874	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227370	0.80[EUR][1000 genomes]
rs12316579	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376126	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1506679	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs1506680	0.85[EUR][1000 genomes]
rs1605296	0.91[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1605297	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1605298	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17095127	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857927	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876241	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2055675	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055676	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055677	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258058	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2408083	0.92[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408084	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2408085	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2465108	0.85[EUR][1000 genomes]
rs2465109	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2465110	0.92[EUR][1000 genomes]
rs2658948	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2658951	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2658954	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2658957	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2658959	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2658965	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2658966	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2710453	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710455	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710457	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2710459	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2710460	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2710461	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2710462	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238095	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4300447	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415832	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4499065	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768075	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768577	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768578	0.84[AMR][1000 genomes]
rs55741117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56892258	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57190502	0.80[EUR][1000 genomes]
rs7312377	0.85[EUR][1000 genomes]
rs74079970	0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957052	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957160	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960817	0.92[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap]
rs7971834	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973268	0.82[EUR][1000 genomes]
rs7975618	0.81[AMR][1000 genomes]
rs7976293	1.00[JPT][hapmap]
rs884259	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs884260	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs978696	1.00[JPT][hapmap]

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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45240200-45248400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45241000-45245200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:45241800-45245800	Enhancers	Fetal Brain Male	brain
4	chr12:45242000-45243800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45242200-45243800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:45242200-45244400	Enhancers	Fetal Brain Female	brain
7	chr12:45242200-45247400	Enhancers	Primary T cells from cord blood	blood
8	chr12:45242400-45246200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45242400-45246800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:45242400-45247400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:45242400-45248000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:45242400-45248600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:45242600-45246200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:45242600-45248400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:45242800-45245400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:45242800-45252200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:45243400-45247200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:45243600-45243800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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