Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1125377	0.81[CEU][hapmap]
rs11918522	0.81[MEX][hapmap]
rs13064268	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064475	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064496	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1387015	0.87[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1387021	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387022	0.82[CHB][hapmap]
rs16860127	0.80[CEU][hapmap];0.90[MEX][hapmap]
rs16860141	0.81[CEU][hapmap]
rs1994509	0.91[CHB][hapmap]
rs2037820	0.81[MEX][hapmap]
rs2078008	0.81[CEU][hapmap]
rs2129941	0.82[CHB][hapmap]
rs2399432	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682119	0.80[CEU][hapmap]
rs4682433	0.81[CHB][hapmap]
rs4682434	0.85[GIH][hapmap];0.86[TSI][hapmap]
rs6763040	0.82[CHB][hapmap]
rs6770923	0.81[MEX][hapmap]
rs6784658	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6809029	0.81[CEU][hapmap]
rs7614868	0.87[ASN][1000 genomes]
rs7625533	0.80[CEU][hapmap]
rs7637319	0.81[CEU][hapmap]
rs7642576	0.82[CHB][hapmap]
rs9809591	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9835599	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6773083	ABHD10	cis	cerebellum	SCAN
rs6773083	C3orf17	cis	cerebellum	SCAN
rs6773083	SLC9A10	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112530200-112538800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:112533200-112536600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:112533200-112537200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:112533200-112543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:112533600-112537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:112533800-112536600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:112535400-112537200	Weak transcription	A549	lung
8	chr3:112535600-112537600	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:112535800-112537400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:112536000-112537200	Enhancers	NHLF	lung
11	chr3:112536000-112537800	Enhancers	NHDF-Ad	bronchial
12	chr3:112536000-112538600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:112536200-112536800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:112536200-112537400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:112536200-112538000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:112536400-112537800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:112536400-112538000	Enhancers	GM12878-XiMat	blood

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