Variant report

Variant	rs4511206
Chromosome Location	chr10:90968759-90968760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10430718	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10509567	0.92[AMR][1000 genomes]
rs10887920	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10887921	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10887922	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10887923	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10887925	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10887926	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10887927	0.92[AMR][1000 genomes]
rs10887928	0.92[AMR][1000 genomes]
rs10887929	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10887932	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11203009	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11203011	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11203014	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11203017	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203018	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203024	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11203025	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11203030	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11203031	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11203032	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11203033	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12217507	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12219735	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17117088	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17117124	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17117126	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1977501	0.86[AMR][1000 genomes]
rs2154255	0.92[AMR][1000 genomes]
rs2211599	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2863216	0.92[AMR][1000 genomes]
rs2902445	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3802657	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3802658	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3923282	0.89[AMR][1000 genomes]
rs4078488	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4399251	0.92[AMR][1000 genomes]
rs4417181	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4617498	0.92[AMR][1000 genomes]
rs4933494	0.89[AMR][1000 genomes]
rs61853072	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7076185	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7098394	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7477966	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7896174	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9651424	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9651495	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv517170	chr10:90931602-90975207	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv467422	chr10:90940687-90975207	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv467423	chr10:90940687-90975207	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv551858	chr10:90940687-90975207	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1038123	chr10:90954417-90992129	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1040280	chr10:90962032-90979093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1042428	chr10:90962252-90977164	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90967600-90987200	Weak transcription	Aorta	Aorta
2	chr10:90968200-90968800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
3	chr10:90968200-90968800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr10:90968200-90968800	Enhancers	Brain Hippocampus Middle	brain
5	chr10:90968200-90970800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:90968200-90971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:90968200-90973200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:90968200-90974000	Weak transcription	HMEC	breast
9	chr10:90968200-90974600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:90968200-90974600	Weak transcription	Spleen	Spleen
11	chr10:90968200-90977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:90968200-90977000	Weak transcription	HSMM	muscle
13	chr10:90968200-90979800	Weak transcription	Ovary	ovary
14	chr10:90968200-90983400	Weak transcription	NHLF	lung
15	chr10:90968200-90994800	Weak transcription	Gastric	stomach
16	chr10:90968400-90970800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:90968400-90971000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:90968400-90973200	Weak transcription	Brain Anterior Caudate	brain
19	chr10:90968400-90973200	Weak transcription	Brain Substantia Nigra	brain
20	chr10:90968400-90973400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:90968400-90973400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:90968400-90974000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:90968400-90974600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:90968400-90974600	Weak transcription	Osteobl	bone
25	chr10:90968400-90975200	Weak transcription	NHEK	skin
26	chr10:90968400-90979400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:90968400-90979400	Weak transcription	Esophagus	oesophagus
28	chr10:90968400-90979400	Weak transcription	Lung	lung
29	chr10:90968400-90979600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:90968400-90987200	Weak transcription	Pancreas	Pancrea
31	chr10:90968400-91000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:90968400-91002200	Weak transcription	Right Ventricle	heart
33	chr10:90968600-90969400	Enhancers	GM12878-XiMat	blood
34	chr10:90968600-90973000	Weak transcription	Adipose Nuclei	Adipose
35	chr10:90968600-90973200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:90968600-90973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:90968600-90973600	Weak transcription	Liver	Liver
38	chr10:90968600-90977000	Weak transcription	HUVEC	blood vessel

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