Variant report

Variant	rs1110585
Chromosome Location	chr2:67094541-67094542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10167484	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs10170124	0.90[AFR][1000 genomes]
rs10177813	0.91[YRI][hapmap]
rs10186923	0.92[YRI][hapmap]
rs10196555	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10197753	0.91[YRI][hapmap]
rs1073280	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109351	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111235	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677614	0.83[AFR][1000 genomes]
rs12713578	0.90[AFR][1000 genomes]
rs12713581	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12713582	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713583	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs12713584	0.85[AFR][1000 genomes]
rs12997959	0.85[AFR][1000 genomes]
rs12998082	0.85[AFR][1000 genomes]
rs13008648	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13018976	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020124	0.87[AFR][1000 genomes]
rs13031245	0.95[ASN][1000 genomes]
rs13416909	0.85[AFR][1000 genomes]
rs13420432	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1559602	0.87[AFR][1000 genomes]
rs17632177	0.87[AFR][1000 genomes]
rs2194660	0.98[AFR][1000 genomes]
rs2194662	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194663	0.81[AFR][1000 genomes]
rs2194664	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194665	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194667	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2216925	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35156489	0.87[AFR][1000 genomes]
rs4671161	0.92[YRI][hapmap]
rs4671751	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671754	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546270	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728659	0.82[AFR][1000 genomes]
rs7594571	0.85[AFR][1000 genomes]
rs7599395	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9798168	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009027	chr2:66947462-67114455	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1110585	MDH1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67089400-67102000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:67089600-67098000	Enhancers	NHLF	lung
3	chr2:67089600-67102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:67089800-67094800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:67090600-67098000	Enhancers	NHDF-Ad	bronchial
6	chr2:67091200-67095800	Weak transcription	NHEK	skin
7	chr2:67091200-67096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:67091200-67096600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:67091800-67098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:67092400-67095200	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:67093000-67097800	Enhancers	HSMM	muscle
12	chr2:67093000-67098000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:67093200-67097400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:67093400-67095600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:67093400-67097000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:67093600-67094800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:67093600-67094800	Enhancers	Colon Smooth Muscle	Colon
18	chr2:67093600-67094800	Enhancers	Fetal Stomach	stomach
19	chr2:67093600-67095400	Enhancers	Fetal Lung	lung
20	chr2:67093600-67098000	Enhancers	NH-A	brain
21	chr2:67094000-67094600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:67094000-67096800	Enhancers	Osteobl	bone
23	chr2:67094200-67095200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:67094400-67095800	Weak transcription	HSMMtube	muscle
25	chr2:67094400-67096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:67094400-67099200	Weak transcription	Fetal Kidney	kidney

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