Variant report

Variant	rs10791538
Chromosome Location	chr11:101741691-101741692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10458947	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10459003	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10466637	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10750619	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791521	0.81[EUR][1000 genomes]
rs10791522	0.81[EUR][1000 genomes]
rs10791525	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10791526	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10791536	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791537	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791541	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791542	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895196	0.81[EUR][1000 genomes]
rs10895197	0.81[EUR][1000 genomes]
rs10895198	0.81[EUR][1000 genomes]
rs10895199	0.81[ASN][1000 genomes]
rs10895200	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10895214	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895215	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895216	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225006	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11225009	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11599998	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939025	0.81[EUR][1000 genomes]
rs1939039	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939057	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1939059	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1939066	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1939071	0.80[EUR][1000 genomes]
rs1939073	0.81[EUR][1000 genomes]
rs1939437	0.81[EUR][1000 genomes]
rs2099834	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155057	0.81[EUR][1000 genomes]
rs2155058	0.81[EUR][1000 genomes]
rs2155061	0.81[EUR][1000 genomes]
rs2155063	0.82[EUR][1000 genomes]
rs2186610	0.80[EUR][1000 genomes]
rs2197105	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4313552	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6590918	0.81[EUR][1000 genomes]
rs7104516	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7126538	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7131271	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs732086	0.81[EUR][1000 genomes]
rs732257	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924364	0.81[EUR][1000 genomes]
rs7936478	0.84[EUR][1000 genomes]
rs9988826	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv832249	chr11:101571819-101749073	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv430425	chr11:101626575-101741691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10791538	MMP13	cis	cerebellum	SCAN
rs10791538	PIGO	trans	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101737800-101743000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:101738200-101743200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:101740200-101742000	Enhancers	NHDF-Ad	bronchial
4	chr11:101740400-101742000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:101740600-101742000	Enhancers	Osteobl	bone
6	chr11:101740600-101742200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:101740600-101742200	Enhancers	Hela-S3	cervix
8	chr11:101740600-101742200	Enhancers	HUVEC	blood vessel
9	chr11:101740600-101742400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:101740600-101742400	Enhancers	HMEC	breast
11	chr11:101740800-101741800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:101740800-101741800	Weak transcription	Small Intestine	intestine
13	chr11:101740800-101741800	Enhancers	NHLF	lung
14	chr11:101741000-101741800	Flanking Active TSS	A549	lung
15	chr11:101741000-101741800	Enhancers	HSMM	muscle
16	chr11:101741000-101742000	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:101741200-101742000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:101741200-101742000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr11:101741200-101742000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:101741200-101742000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:101741200-101742000	Enhancers	NH-A	brain
22	chr11:101741400-101742000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:101741600-101742800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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