Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10491979	0.93[EUR][1000 genomes]
rs10491981	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304175	0.96[EUR][1000 genomes]
rs12307843	0.93[EUR][1000 genomes]
rs16935010	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16935013	1.00[EUR][1000 genomes]
rs16935135	0.96[EUR][1000 genomes]
rs17745379	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745415	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818016	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818022	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795551	0.97[EUR][1000 genomes]
rs57529731	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302311	0.93[EUR][1000 genomes]
rs73286605	0.93[EUR][1000 genomes]
rs73286618	0.96[EUR][1000 genomes]
rs7954816	0.93[EUR][1000 genomes]
rs7972594	0.93[EUR][1000 genomes]
rs7975032	0.90[EUR][1000 genomes]
rs969769	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11709800-11714200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:11710000-11714200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:11710000-11714600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:11713600-11716200	Enhancers	GM12878-XiMat	blood
5	chr12:11713800-11714200	Enhancers	Aorta	Aorta
6	chr12:11713800-11714400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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