Variant report

Variant	rs12192538
Chromosome Location	chr6:70936221-70936222
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	chr6:70935787..70939649-chr6:70943488..70947282,5	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1023034	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10498872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10945208	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12153933	1.00[ASN][1000 genomes]
rs12190357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194091	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12194189	1.00[ASN][1000 genomes]
rs12194415	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12197487	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12197540	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12203351	1.00[ASN][1000 genomes]
rs12209467	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212518	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201224	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13201233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201660	1.00[ASN][1000 genomes]
rs13202029	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13212724	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13216129	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13219431	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2025995	1.00[ASN][1000 genomes]
rs2025996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037225	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138659	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2182998	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35005937	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35796471	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35970582	1.00[ASN][1000 genomes]
rs4342384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62420318	1.00[ASN][1000 genomes]
rs62421673	1.00[ASN][1000 genomes]
rs642635	0.89[EUR][1000 genomes]
rs6455358	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6903986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6935778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7743980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755873	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761044	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446215	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9455015	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9455017	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9455019	1.00[CHB][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70931400-70961400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:70932400-70938000	Weak transcription	Fetal Brain Female	brain
3	chr6:70932600-70951800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:70933000-70951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:70933600-70947800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:70934400-70951600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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