Variant report

Variant	rs1438355
Chromosome Location	chr8:105670508-105670509
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	chr8:105665119..105666713-chr8:105669942..105672680,2	K562	blood:
2	chr8:105647711..105650674-chr8:105669105..105672035,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10505062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes]
rs10955352	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs10955357	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775166	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776230	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11782169	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782366	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782889	0.89[AMR][1000 genomes]
rs11783063	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783104	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783651	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11784193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs11786825	0.90[CEU][hapmap]
rs11989936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11996303	0.89[AMR][1000 genomes]
rs12675273	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12678904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes]
rs12678962	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs12681898	0.92[AMR][1000 genomes]
rs13249169	1.00[JPT][hapmap]
rs13250948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13254058	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254678	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260018	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262954	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265320	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13268122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270263	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap]
rs16871500	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs1837203	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880074	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018438	0.83[ASW][hapmap];0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs33999897	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34008887	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155867	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34306176	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340810	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34690452	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34881302	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35085883	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140929	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35258168	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35263244	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35379160	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35467682	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35517423	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35635659	0.85[EUR][1000 genomes]
rs35649342	0.92[AMR][1000 genomes]
rs35795037	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263729	0.83[ASW][hapmap];0.83[CEU][hapmap];1.00[JPT][hapmap]
rs4288345	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552868	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes]
rs4734803	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs6468939	1.00[JPT][hapmap]
rs66494641	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67089516	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67555988	0.88[AMR][1000 genomes]
rs6984152	0.96[AMR][1000 genomes]
rs6990243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6993149	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs6994764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6995010	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004507	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes]
rs7009594	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520900	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520901	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731126	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821181	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7823671	0.82[ASW][hapmap];0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs7824500	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834086	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes]
rs7842204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7845137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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
rs1438355	LRP12	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105664800-105670600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:105665400-105670600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:105667400-105671400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:105667400-105671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:105667600-105671000	Weak transcription	HSMMtube	muscle
6	chr8:105667800-105671400	Weak transcription	NHLF	lung
7	chr8:105667800-105671600	Weak transcription	NH-A	brain
8	chr8:105667800-105674200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:105667800-105674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:105668000-105671000	Weak transcription	Osteobl	bone
11	chr8:105668000-105671400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:105668000-105674400	Weak transcription	HMEC	breast
13	chr8:105668000-105674600	Weak transcription	NHEK	skin
14	chr8:105668200-105670800	Weak transcription	NHDF-Ad	bronchial
15	chr8:105668200-105671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:105668400-105671200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:105669600-105671200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:105669600-105671200	Weak transcription	HSMM	muscle
19	chr8:105669800-105671800	Enhancers	K562	blood
20	chr8:105670000-105670600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:105670400-105673800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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