Variant report

Variant	rs6816625
Chromosome Location	chr4:129162391-129162392
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	chr4:129160558..129162519-chr4:129164377..129167421,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10002814	0.95[EUR][1000 genomes]
rs11098951	0.81[ASN][1000 genomes]
rs11098953	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098954	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11728141	0.88[ASN][1000 genomes]
rs12650034	0.88[ASN][1000 genomes]
rs13103317	0.87[ASN][1000 genomes]
rs1391980	0.93[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1829726	0.87[ASN][1000 genomes]
rs1851399	0.88[ASN][1000 genomes]
rs2036687	0.88[ASN][1000 genomes]
rs2101808	0.88[ASN][1000 genomes]
rs2202805	0.86[ASN][1000 genomes]
rs2391257	0.88[ASN][1000 genomes]
rs28609279	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290004	0.92[ASN][1000 genomes]
rs34837036	0.95[ASN][1000 genomes]
rs3755896	0.88[ASN][1000 genomes]
rs4016	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs430431	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4975180	0.85[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.88[ASN][1000 genomes]
rs4975220	0.85[CEU][hapmap]
rs4975299	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4975300	0.80[EUR][1000 genomes]
rs62318161	0.87[ASN][1000 genomes]
rs6814132	0.87[ASN][1000 genomes]
rs6842987	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6849992	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666566	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9790593	0.93[CHD][hapmap];0.81[JPT][hapmap];0.81[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	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6816625	LARP2	cis	multi-tissue	Pritchard

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129161200-129162400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:129161200-129162800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:129161200-129165600	Enhancers	Placenta	Placenta
4	chr4:129161400-129162400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:129161400-129162400	Enhancers	NHDF-Ad	bronchial
6	chr4:129161400-129162800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:129161600-129162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:129161600-129162600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:129161600-129163600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:129161600-129163800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:129161600-129163800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:129161600-129163800	Enhancers	HMEC	breast
13	chr4:129161600-129163800	Enhancers	HSMM	muscle
14	chr4:129161800-129162600	Enhancers	NHEK	skin
15	chr4:129161800-129162800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:129161800-129163200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:129161800-129163800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:129161800-129163800	Enhancers	NHLF	lung
19	chr4:129161800-129164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:129161800-129164000	Enhancers	Osteobl	bone
21	chr4:129162000-129162600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:129162000-129162600	Enhancers	HepG2	liver
23	chr4:129162000-129163200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:129162000-129163400	Enhancers	Adipose Nuclei	Adipose
25	chr4:129162200-129162400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr4:129162200-129162400	Flanking Active TSS	HSMMtube	muscle
27	chr4:129162200-129162600	Enhancers	NH-A	brain
28	chr4:129162200-129163200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:129162200-129163200	Enhancers	Fetal Intestine Small	intestine
30	chr4:129162200-129163800	Enhancers	Hela-S3	cervix
31	chr4:129162200-129164000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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