Variant report

Variant	rs12189789
Chromosome Location	chr6:49382605-49382606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49380929..49382951-chr6:49385028..49387264,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10484961	0.88[JPT][hapmap]
rs10948505	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10948506	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10948507	0.88[ASN][1000 genomes]
rs11964378	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11970105	0.87[EUR][1000 genomes]
rs12190697	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191171	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197340	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12197394	0.87[EUR][1000 genomes]
rs12198507	0.88[ASN][1000 genomes]
rs12202875	0.88[ASN][1000 genomes]
rs12204398	0.88[ASN][1000 genomes]
rs12204617	0.88[ASN][1000 genomes]
rs12206768	0.88[ASN][1000 genomes]
rs12208117	0.88[ASN][1000 genomes]
rs12208221	0.88[ASN][1000 genomes]
rs12214010	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12214609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663557	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17663627	0.88[ASN][1000 genomes]
rs2127756	0.88[ASN][1000 genomes]
rs2127759	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2229385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57912929	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928563	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750700	0.91[YRI][hapmap]
rs7755833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756016	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7774623	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9395494	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv915806	chr6:49313295-49430422	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv970648	chr6:49369351-49383043	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49378200-49383200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:49378400-49383200	Weak transcription	Osteobl	bone
3	chr6:49382000-49396600	Weak transcription	Aorta	Aorta
4	chr6:49382600-49383400	Enhancers	A549	lung

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