Variant report

Variant	rs12198077
Chromosome Location	chr6:27169307-27169308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27099284..27102120-chr6:27168045..27170090,3	K562	blood:
2	chr6:27154260..27155926-chr6:27167713..27170180,2	K562	blood:

Variant related genes	Relation type
ENSG00000124635	Chromatin interaction
ENSG00000196787	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1062834	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10946896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10946900	0.84[ASN][1000 genomes]
rs1102557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758615	0.81[EUR][1000 genomes]
rs12153912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12189835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12189964	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12190473	1.00[JPT][hapmap]
rs12191280	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12191414	0.87[CEU][hapmap]
rs12192049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192320	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192446	0.84[ASN][1000 genomes]
rs12192502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12192766	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12193820	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12194893	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12195144	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12195360	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12196084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12196889	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12199218	1.00[JPT][hapmap]
rs12200482	0.80[EUR][1000 genomes]
rs12200798	0.82[EUR][1000 genomes]
rs12200985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12201498	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12201774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12203728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12204768	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12205628	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12205921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12206996	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12207614	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208534	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209800	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12210905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12213361	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12214848	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12214930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12215241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12215773	0.82[ASN][1000 genomes]
rs2023467	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800305	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800306	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800310	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3922717	1.00[JPT][hapmap]
rs41269245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4541737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4636015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5030955	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5030958	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67153537	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6902012	1.00[CEU][hapmap]
rs6911234	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6917419	0.91[CEU][hapmap]
rs6920115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6931711	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938397	0.91[CEU][hapmap]
rs6940638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs72838266	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72838268	0.82[ASN][1000 genomes]
rs72842200	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843607	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843608	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843609	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843611	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843613	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843619	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843622	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843629	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843633	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843640	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843641	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843643	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843644	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7753284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7756481	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs858984	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs858985	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs858986	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs858988	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs858989	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs858992	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs858995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9348752	0.91[CEU][hapmap]
rs9348756	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9348759	0.91[CEU][hapmap]
rs9366690	0.89[CEU][hapmap]
rs9368500	0.91[CEU][hapmap]
rs9379970	1.00[CEU][hapmap]
rs9379975	0.91[CEU][hapmap];1.00[AFR][1000 genomes]
rs9393796	0.91[CEU][hapmap]
rs9393802	1.00[CEU][hapmap]
rs9393803	1.00[CEU][hapmap]
rs9467965	1.00[CEU][hapmap]
rs9467971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27156800-27173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:27168800-27173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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