Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121191123..121193615-chr12:121194473..121197241,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10437837	0.96[ASN][1000 genomes]
rs10437838	0.84[EUR][1000 genomes]
rs10774570	0.91[AMR][1000 genomes]
rs10849782	0.82[EUR][1000 genomes]
rs10849785	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10849787	0.84[EUR][1000 genomes]
rs10849788	0.84[EUR][1000 genomes]
rs10849789	0.92[ASN][1000 genomes]
rs10849790	0.81[EUR][1000 genomes]
rs10849792	0.81[ASN][1000 genomes]
rs10849794	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849795	0.81[ASN][1000 genomes]
rs10849814	0.83[AMR][1000 genomes]
rs11065262	0.96[ASN][1000 genomes]
rs11065266	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065271	0.81[ASN][1000 genomes]
rs11065276	0.81[ASN][1000 genomes]
rs12302189	1.00[ASN][1000 genomes]
rs12423697	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3213568	0.81[EUR][1000 genomes]
rs3213569	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213571	0.85[EUR][1000 genomes]
rs56137011	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7300695	0.85[EUR][1000 genomes]
rs73229135	0.81[ASN][1000 genomes]
rs73229156	0.91[AMR][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
5	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
6	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
7	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
8	chr12:121186600-121192400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:121189600-121197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
11	chr12:121191800-121192400	Weak transcription	GM12878-XiMat	blood

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