Variant report

Variant	rs12492690
Chromosome Location	chr3:51217500-51217501
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	chr3:51215855..51218333-chr3:51233229..51235282,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12485331	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12485754	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12487496	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12489219	0.89[EUR][1000 genomes]
rs12490026	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12491836	1.00[EUR][1000 genomes]
rs12492615	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12493034	0.89[EUR][1000 genomes]
rs12493323	0.89[EUR][1000 genomes]
rs12493359	0.89[EUR][1000 genomes]
rs12495561	0.89[EUR][1000 genomes]
rs12496830	0.89[EUR][1000 genomes]
rs1809388	0.89[EUR][1000 genomes]
rs2086395	0.89[EUR][1000 genomes]
rs2127654	1.00[EUR][1000 genomes]
rs2170177	0.84[EUR][1000 genomes]
rs2355946	0.84[EUR][1000 genomes]
rs3762711	1.00[EUR][1000 genomes]
rs4130473	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323036	0.89[EUR][1000 genomes]
rs4346580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4927961	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974100	0.89[EUR][1000 genomes]
rs4974112	0.89[EUR][1000 genomes]
rs56052360	0.89[EUR][1000 genomes]
rs57406588	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58720544	0.89[EUR][1000 genomes]
rs58911602	0.89[EUR][1000 genomes]
rs59682667	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59834534	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59957657	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60128296	0.84[EUR][1000 genomes]
rs60461297	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60567238	0.89[EUR][1000 genomes]
rs60740654	0.89[EUR][1000 genomes]
rs60882641	0.89[EUR][1000 genomes]
rs6792254	0.89[EUR][1000 genomes]
rs72936442	0.89[EUR][1000 genomes]
rs72936462	0.84[EUR][1000 genomes]
rs72941919	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72943130	0.89[EUR][1000 genomes]
rs72943137	0.89[EUR][1000 genomes]
rs72943166	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72948197	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72948200	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72953143	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72953162	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72953175	1.00[EUR][1000 genomes]
rs7372342	0.89[EUR][1000 genomes]
rs9878592	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51211600-51218600	Weak transcription	Brain Angular Gyrus	brain
2	chr3:51212800-51218200	Weak transcription	Brain Germinal Matrix	brain
3	chr3:51213000-51218200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:51213000-51219800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:51213000-51246000	Weak transcription	Brain Inferior Temporal Lobe	brain

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