Variant report

Variant	rs4734112
Chromosome Location	chr8:105761270-105761271
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105543820..105546530-chr8:105760722..105763113,2	K562	blood:
2	chr8:105759294..105761344-chr8:105767843..105769830,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1000420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1000421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10086996	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10087624	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10087797	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10101771	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10102865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs10107275	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10481103	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12542435	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13261603	0.85[EUR][1000 genomes]
rs13273368	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs13273842	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs13274855	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13279815	0.85[EUR][1000 genomes]
rs16871782	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1992212	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2118601	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2118602	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2118603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2164929	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28488458	0.88[EUR][1000 genomes]
rs34365221	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34485812	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34856015	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35144052	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3847143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3857892	0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap]
rs4392866	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734808	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4734811	0.83[CHB][hapmap]
rs6994940	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6999308	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7009228	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71522715	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs718635	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9297348	0.84[AMR][1000 genomes];0.88[EUR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4734112	LRP12	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105760000-105766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:105760400-105762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:105760400-105764400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:105760400-105764600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:105760400-105764600	Weak transcription	NH-A	brain
6	chr8:105760400-105764600	Weak transcription	NHEK	skin
7	chr8:105760400-105764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:105760600-105764400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:105760600-105764400	Weak transcription	HMEC	breast
10	chr8:105760600-105764400	Weak transcription	Osteobl	bone
11	chr8:105760600-105764600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:105760600-105766600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:105761000-105764600	Weak transcription	NHDF-Ad	bronchial
14	chr8:105761200-105761600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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