Variant report

Variant	rs4767960
Chromosome Location	chr12:40474279-40474280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10784353	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784356	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10784359	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784369	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10878031	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10878049	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878089	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174702	0.81[ASN][1000 genomes]
rs11174809	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11174812	0.92[ASN][1000 genomes]
rs11174813	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11175024	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12813098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472118	0.84[AFR][1000 genomes]
rs1586038	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1600866	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2128275	0.90[ASN][1000 genomes]
rs2404352	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2896825	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2896905	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3925535	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4625545	0.90[ASN][1000 genomes]
rs6581504	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7139216	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs716268	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313209	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7313231	0.90[ASN][1000 genomes]
rs7959498	0.90[ASN][1000 genomes]
rs7960662	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9669240	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4767960	AC079630.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40453800-40487400	Weak transcription	Left Ventricle	heart
2	chr12:40464400-40493200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40471400-40496800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:40473400-40475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:40474000-40476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:40474200-40476200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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