Variant report

Variant	rs57205785
Chromosome Location	chr12:59417155-59417156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10506357	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10877200	0.95[ASN][1000 genomes]
rs10877203	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172858	0.87[ASN][1000 genomes]
rs11172860	0.87[ASN][1000 genomes]
rs11172861	0.87[ASN][1000 genomes]
rs11172862	0.87[ASN][1000 genomes]
rs11172866	0.95[ASN][1000 genomes]
rs11172867	0.95[ASN][1000 genomes]
rs11172869	0.95[ASN][1000 genomes]
rs11172870	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11172873	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172874	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172876	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172878	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172880	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172881	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172882	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172888	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172891	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172898	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12367126	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368035	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12368658	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12369750	0.95[ASN][1000 genomes]
rs12370707	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12371014	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12422372	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12425735	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1444099	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1444102	0.95[ASN][1000 genomes]
rs1568303	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17121828	0.95[ASN][1000 genomes]
rs17536893	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17537939	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17627506	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2120527	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41341248	0.84[AFR][1000 genomes]
rs55888651	0.95[ASN][1000 genomes]
rs58692617	0.87[ASN][1000 genomes]
rs61919523	0.82[ASN][1000 genomes]
rs61919524	0.87[ASN][1000 genomes]
rs61919525	0.91[ASN][1000 genomes]
rs61919531	0.95[ASN][1000 genomes]
rs61919532	0.95[ASN][1000 genomes]
rs61919550	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61934309	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6581224	0.82[ASN][1000 genomes]
rs7303773	0.87[ASN][1000 genomes]
rs7309872	0.82[ASN][1000 genomes]
rs7314727	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74091473	0.90[AFR][1000 genomes]
rs74091483	0.81[AFR][1000 genomes]
rs7960109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961788	0.81[AFR][1000 genomes]
rs7968111	0.87[ASN][1000 genomes]
rs7980955	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv526485	chr12:59412802-59422668	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv522058	chr12:59416727-59422668	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59408600-59420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59416000-59418800	Weak transcription	Aorta	Aorta
3	chr12:59417000-59417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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