Variant report

Variant	rs12638508
Chromosome Location	chr3:23511815-23511816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10510538	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1054048	0.86[AMR][1000 genomes]
rs17405137	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55737333	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57338964	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57859482	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58157906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59180179	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59461083	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59738871	0.88[ASN][1000 genomes]
rs60378326	0.81[AMR][1000 genomes]
rs61264520	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73041534	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73041537	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73041557	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73041601	1.00[EUR][1000 genomes]
rs73043622	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73043635	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73043637	0.85[EUR][1000 genomes]
rs73043648	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73043654	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73043662	0.80[EUR][1000 genomes]
rs73043677	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73043684	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73043689	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73043697	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73045614	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73045642	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73049415	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049445	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049455	0.82[EUR][1000 genomes]
rs73049457	0.82[EUR][1000 genomes]
rs7632099	1.00[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	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23498200-23516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:23506800-23516400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:23507200-23516600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:23507400-23512800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:23507400-23516200	Weak transcription	HSMMtube	muscle
6	chr3:23510000-23512000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr3:23510000-23512200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr3:23511000-23512000	Enhancers	Brain Substantia Nigra	brain
9	chr3:23511200-23512000	Enhancers	Brain Anterior Caudate	brain
10	chr3:23511400-23512000	Enhancers	Psoas Muscle	Psoas
11	chr3:23511600-23512000	Enhancers	Left Ventricle	heart
12	chr3:23511600-23516400	Weak transcription	Brain Cingulate Gyrus	brain

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