Variant report

Variant	rs4738679
Chromosome Location	chr8:59370320-59370321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10107182	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1030431	0.96[CEU][hapmap]
rs10504255	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10957054	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11783515	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11996829	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13253288	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13263105	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13277801	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1529367	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1529368	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1580180	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1993453	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016886	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2081687	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2326077	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738680	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738684	0.82[EUR][1000 genomes]
rs6471717	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6982486	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6985620	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005978	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7007181	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7826120	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192870	1.00[ASW][hapmap];0.87[CEU][hapmap];0.87[MEX][hapmap]
rs9297994	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs983812	0.84[AMR][1000 genomes];0.92[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4738679	IMPAD1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59325200-59370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:59349800-59370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:59353800-59370400	Weak transcription	Esophagus	oesophagus
4	chr8:59368400-59370400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:59368400-59376400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:59368600-59371000	Enhancers	Liver	Liver
7	chr8:59369000-59371400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:59369600-59372200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:59369600-59372200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:59369600-59372400	Enhancers	HMEC	breast
11	chr8:59369800-59370600	Enhancers	NHEK	skin
12	chr8:59370000-59372200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:59370200-59371000	Enhancers	HSMM	muscle

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