Variant report

Variant	rs12824927
Chromosome Location	chr12:20986061-20986062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10841596	1.00[ASN][1000 genomes]
rs10841650	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10841652	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10841654	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10841660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11045403	1.00[ASN][1000 genomes]
rs11045419	1.00[ASN][1000 genomes]
rs11045510	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11045511	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11045512	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045513	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045515	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045516	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11045517	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045520	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045521	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045522	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045531	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11045540	0.98[EUR][1000 genomes]
rs11045541	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11494687	1.00[ASN][1000 genomes]
rs11608908	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610333	1.00[ASN][1000 genomes]
rs11611945	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11611994	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11612020	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11612051	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11613314	1.00[ASN][1000 genomes]
rs11614888	1.00[ASN][1000 genomes]
rs12368457	1.00[ASN][1000 genomes]
rs12810377	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812137	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12815346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816821	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12817904	1.00[ASN][1000 genomes]
rs12818051	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818427	1.00[ASN][1000 genomes]
rs12819654	1.00[ASN][1000 genomes]
rs12820092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825151	1.00[ASN][1000 genomes]
rs12825751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12829169	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12831149	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831914	1.00[ASN][1000 genomes]
rs1581193	0.82[EUR][1000 genomes]
rs17617462	1.00[ASN][1000 genomes]
rs17674085	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34100556	1.00[ASN][1000 genomes]
rs34274711	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34303444	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34671913	1.00[ASN][1000 genomes]
rs34873412	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34890245	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34911114	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34934875	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34953944	1.00[ASN][1000 genomes]
rs35069963	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35209399	1.00[ASN][1000 genomes]
rs35431286	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35495502	1.00[ASN][1000 genomes]
rs35589427	1.00[ASN][1000 genomes]
rs35628593	1.00[ASN][1000 genomes]
rs36124215	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36132437	1.00[ASN][1000 genomes]
rs4373986	1.00[ASN][1000 genomes]
rs71436838	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446716	1.00[ASN][1000 genomes]
rs71446727	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446728	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71446729	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310629	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73240463	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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
13	nsv898860	chr12:20964557-21015760	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
14	nsv976583	chr12:20968620-21036807	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	esv3430292	chr12:20985785-20988508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv898861	chr12:20985903-21011480	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
17	nsv898862	chr12:20985903-21012137	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
18	nsv898863	chr12:20985903-21015760	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
19	nsv898864	chr12:20985903-21016568	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
20	nsv898865	chr12:20985903-21034865	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
21	nsv898866	chr12:20985903-21143450	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv3409301	chr12:20986012-21293153	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20983400-20996400	Weak transcription	Hela-S3	cervix
2	chr12:20983600-20995600	Weak transcription	Liver	Liver
3	chr12:20985600-20986200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:20985800-20986200	Enhancers	Brain Substantia Nigra	brain
5	chr12:20986000-20986200	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:20986000-20986200	Enhancers	A549	lung
7	chr12:20986000-20987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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