Variant report

Variant	rs12093901
Chromosome Location	chr1:186469920-186469921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10798051	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10911877	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911878	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911888	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10911890	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10911892	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10911895	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11580808	0.86[EUR][1000 genomes]
rs11582183	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11805124	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12087470	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12402521	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12728706	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12750371	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16825434	0.80[ASN][1000 genomes]
rs1799957	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1929092	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2008704	0.81[ASN][1000 genomes]
rs2024761	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2180167	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2207727	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2383508	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34396375	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35643079	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35868587	0.80[ASN][1000 genomes]
rs36105782	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3844242	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3901243	0.82[ASN][1000 genomes]
rs3901950	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140433	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4567244	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59547074	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425035	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6659683	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6666413	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6666813	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6672836	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6675505	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6677346	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6680252	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6689065	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6689727	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6694957	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7518525	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7536199	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7556360	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186459400-186471800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:186466400-186471000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:186466600-186470600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:186467000-186471000	Weak transcription	GM12878-XiMat	blood
5	chr1:186467000-186471400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:186467200-186470200	Enhancers	HUVEC	blood vessel
7	chr1:186467200-186471200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:186467200-186474400	Enhancers	NHDF-Ad	bronchial
9	chr1:186467400-186470600	Enhancers	NHEK	skin
10	chr1:186467600-186470200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:186467600-186470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:186467600-186470400	Enhancers	HMEC	breast
13	chr1:186468400-186470600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:186468600-186470000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:186468600-186470400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:186468800-186471000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:186468800-186471200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:186468800-186472200	Weak transcription	NH-A	brain
19	chr1:186469000-186470600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:186469200-186470200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:186469200-186470400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:186469200-186470800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186469200-186472200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:186469200-186472200	Enhancers	A549	lung
25	chr1:186469400-186470800	Weak transcription	Osteobl	bone
26	chr1:186469400-186472400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:186469600-186470400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:186469600-186471200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:186469800-186470200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:186469800-186472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:186469800-186473200	Weak transcription	Aorta	Aorta

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