Variant report

Variant	rs12204438
Chromosome Location	chr6:70861487-70861488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70861054..70863597-chr6:70870424..70874641,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10806630	0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10945198	1.00[CHB][hapmap]
rs10945199	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs10945202	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10945206	1.00[JPT][hapmap]
rs12154117	1.00[JPT][hapmap]
rs12189655	1.00[YRI][hapmap]
rs12191701	1.00[JPT][hapmap]
rs12191702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12192237	0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs12195968	1.00[JPT][hapmap]
rs12201626	0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs12209857	1.00[JPT][hapmap]
rs12210719	0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs12210870	1.00[JPT][hapmap]
rs12211880	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1464159	0.81[ASN][1000 genomes]
rs17712300	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs2176356	1.00[JPT][hapmap]
rs2346211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510423	1.00[JPT][hapmap]
rs56179051	0.84[ASN][1000 genomes]
rs6932776	1.00[JPT][hapmap]
rs7764390	1.00[YRI][hapmap]
rs9354910	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70842400-70875200	Weak transcription	GM12878-XiMat	blood
2	chr6:70847600-70874800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:70856200-70899400	Weak transcription	Left Ventricle	heart
4	chr6:70859000-70863800	Strong transcription	Primary B cells from cord blood	blood
5	chr6:70859800-70862400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:70860600-70861800	Enhancers	Psoas Muscle	Psoas
7	chr6:70860800-70862800	Weak transcription	HSMMtube	muscle
8	chr6:70861200-70862200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:70861200-70862200	Enhancers	HSMM	muscle

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