Variant report

Variant	rs1002441
Chromosome Location	chr12:20953580-20953581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10444412	0.96[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10770715	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs10841604	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs10841605	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs10841611	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10841612	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10841613	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10841615	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10841616	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11045422	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs11045428	0.89[CEU][hapmap];0.94[JPT][hapmap]
rs11045432	0.87[CEU][hapmap]
rs11045439	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11045440	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11045441	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11045446	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11045447	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11045448	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11045458	0.89[ASN][1000 genomes]
rs11045459	0.90[ASN][1000 genomes]
rs11045460	0.90[ASN][1000 genomes]
rs11045477	0.90[ASN][1000 genomes]
rs11045497	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11045501	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11045503	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11494694	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11519054	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12368841	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs12371796	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs12371798	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs12810927	0.80[EUR][1000 genomes]
rs12818167	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12818525	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12821686	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1356147	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs1399932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1515764	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs1515765	0.93[CEU][hapmap];0.95[JPT][hapmap]
rs1554146	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs1554149	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs1554151	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs1588918	0.90[ASN][1000 genomes]
rs1829009	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2099368	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138332	0.95[JPT][hapmap]
rs2271656	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs2417864	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs35508637	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35962288	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4141474	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4531518	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs4762670	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4762772	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs4762773	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4762774	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4762777	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4762780	0.90[ASN][1000 genomes]
rs4762781	0.90[ASN][1000 genomes]
rs4762784	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61921585	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6487138	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7137980	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs7295297	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7297868	0.86[ASN][1000 genomes]
rs7311073	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs7311098	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs7311295	0.90[ASN][1000 genomes]
rs7311533	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs7967660	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7980844	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs953001	0.92[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs953002	0.96[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs957164	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9669084	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs972505	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs972506	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs972507	0.92[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs974039	0.96[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs974040	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs974041	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv869995	chr12:20929531-21081863	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2758297	chr12:20942215-21117820	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759882	chr12:20942215-21117820	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv427905	chr12:20942215-21117820	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv428275	chr12:20942215-21117820	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898859	chr12:20950737-21082276	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20942600-20961200	Weak transcription	A549	lung
2	chr12:20953000-20953600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:20953000-20954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:20953200-20953600	Enhancers	Liver	Liver
5	chr12:20953200-20958000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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