Variant report

Variant	rs12212518
Chromosome Location	chr6:70940703-70940704
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1023034	1.00[ASN][1000 genomes]
rs10498872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10945208	1.00[ASN][1000 genomes]
rs12153933	1.00[ASN][1000 genomes]
rs12190357	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192538	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194091	1.00[ASN][1000 genomes]
rs12194189	1.00[ASN][1000 genomes]
rs12194415	1.00[ASN][1000 genomes]
rs12197487	1.00[ASN][1000 genomes]
rs12197540	1.00[ASN][1000 genomes]
rs12203351	1.00[ASN][1000 genomes]
rs12209467	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201224	1.00[ASN][1000 genomes]
rs13201233	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201660	1.00[ASN][1000 genomes]
rs13202029	1.00[ASN][1000 genomes]
rs13212724	1.00[ASN][1000 genomes]
rs13216129	1.00[ASN][1000 genomes]
rs13219431	1.00[ASN][1000 genomes]
rs2025995	1.00[ASN][1000 genomes]
rs2025996	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037225	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138659	1.00[ASN][1000 genomes]
rs2182998	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35005937	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35796471	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35970582	1.00[ASN][1000 genomes]
rs4342384	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62420318	1.00[ASN][1000 genomes]
rs62421673	1.00[ASN][1000 genomes]
rs642635	0.90[EUR][1000 genomes]
rs6455358	1.00[ASN][1000 genomes]
rs6903986	1.00[ASN][1000 genomes]
rs6935778	1.00[ASN][1000 genomes]
rs7743980	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755873	1.00[ASN][1000 genomes]
rs7761044	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446215	1.00[ASN][1000 genomes]
rs9455015	1.00[ASN][1000 genomes]
rs9455017	1.00[ASN][1000 genomes]

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:10 , 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	chr6:70932600-70951800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:70933000-70951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:70933600-70947800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:70934400-70951600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:70938400-70941000	Enhancers	Fetal Brain Male	brain
7	chr6:70939000-70951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:70939600-70942200	Weak transcription	Fetal Brain Female	brain
9	chr6:70939600-70942800	Enhancers	Fetal Stomach	stomach
10	chr6:70940600-70941800	Enhancers	Brain Germinal Matrix	brain

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