Variant report

Variant	rs62270060
Chromosome Location	chr3:110296072-110296073
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10934063	0.89[EUR][1000 genomes]
rs10934064	0.89[EUR][1000 genomes]
rs11719761	0.85[ASN][1000 genomes]
rs11923659	0.86[ASN][1000 genomes]
rs11925026	0.89[EUR][1000 genomes]
rs12053862	0.83[EUR][1000 genomes]
rs12053901	0.89[EUR][1000 genomes]
rs12054102	0.84[AMR][1000 genomes]
rs13078633	0.83[ASN][1000 genomes]
rs1462295	0.89[EUR][1000 genomes]
rs1512662	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1606350	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16856946	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17202417	0.85[ASN][1000 genomes]
rs2055968	0.95[EUR][1000 genomes]
rs2895375	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4682179	0.85[ASN][1000 genomes]
rs57198450	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57680282	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58500543	0.89[EUR][1000 genomes]
rs59612531	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59985710	1.00[EUR][1000 genomes]
rs60302938	0.89[EUR][1000 genomes]
rs62270063	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62270076	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62270083	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62270086	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62270095	1.00[EUR][1000 genomes]
rs62270100	1.00[EUR][1000 genomes]
rs62270121	0.89[EUR][1000 genomes]
rs62270122	0.89[EUR][1000 genomes]
rs62270123	0.89[EUR][1000 genomes]
rs62270124	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62270127	0.89[EUR][1000 genomes]
rs62270128	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62270129	0.81[AMR][1000 genomes]
rs62270130	0.89[EUR][1000 genomes]
rs62270134	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62271562	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62271576	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62271578	0.84[EUR][1000 genomes]
rs62271586	0.89[EUR][1000 genomes]
rs62271587	0.89[EUR][1000 genomes]
rs62271588	0.89[EUR][1000 genomes]
rs62271591	0.89[EUR][1000 genomes]
rs62271592	0.89[EUR][1000 genomes]
rs62271606	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62271607	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62271608	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62271609	1.00[EUR][1000 genomes]
rs62271610	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62271612	1.00[EUR][1000 genomes]
rs62271615	1.00[EUR][1000 genomes]
rs62271616	1.00[EUR][1000 genomes]
rs62271618	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62271620	1.00[EUR][1000 genomes]
rs62271621	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62271636	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62271639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62271642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62271644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62271646	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62271647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62271761	0.83[EUR][1000 genomes]
rs62271763	0.89[EUR][1000 genomes]
rs62271766	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62271784	0.94[EUR][1000 genomes]
rs62271785	0.94[EUR][1000 genomes]
rs62271788	0.83[EUR][1000 genomes]
rs62271790	0.83[EUR][1000 genomes]
rs6765569	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6768474	0.81[EUR][1000 genomes]
rs6772035	0.89[EUR][1000 genomes]
rs6776067	0.89[EUR][1000 genomes]
rs6781483	1.00[EUR][1000 genomes]
rs6784648	0.89[EUR][1000 genomes]
rs7617903	0.84[EUR][1000 genomes]
rs7618299	0.83[EUR][1000 genomes]
rs7626514	0.85[ASN][1000 genomes]
rs7628733	0.89[EUR][1000 genomes]
rs7630242	0.88[ASN][1000 genomes]
rs7631316	1.00[EUR][1000 genomes]
rs7632974	0.89[EUR][1000 genomes]
rs7634524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7634536	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7640442	0.83[EUR][1000 genomes]
rs7641379	0.83[EUR][1000 genomes]
rs7650722	0.89[EUR][1000 genomes]
rs7652062	0.81[EUR][1000 genomes]
rs9653909	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9809312	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9809608	0.88[ASN][1000 genomes]
rs9825259	0.89[EUR][1000 genomes]
rs9858359	0.89[EUR][1000 genomes]
rs9873714	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999414	chr3:110103126-110340180	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv829670	chr3:110134650-110308256	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv520365	chr3:110155172-110441165	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001144	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv536687	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1001810	chr3:110158316-110522247	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1010230	chr3:110204439-110588814	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv536688	chr3:110204439-110588814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv829672	chr3:110206693-110361632	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1011034	chr3:110209344-110559021	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv536689	chr3:110209344-110559021	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv460820	chr3:110283716-110321035	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv591274	chr3:110283716-110321035	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1014199	chr3:110293896-110754155	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110293400-110301600	Weak transcription	Dnd41	blood
2	chr3:110294400-110298600	Enhancers	NHDF-Ad	bronchial
3	chr3:110294600-110297200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:110294600-110299000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:110294600-110299400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:110294600-110299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:110294800-110297400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:110294800-110297400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:110294800-110297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:110294800-110299400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:110295400-110296600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:110295400-110296600	Enhancers	HUVEC	blood vessel
13	chr3:110295400-110297000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:110295400-110297200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:110295400-110297200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:110295400-110297400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:110295400-110297400	Enhancers	Osteobl	bone
18	chr3:110295400-110299400	Enhancers	HSMM	muscle
19	chr3:110295600-110296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:110295600-110296600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:110295600-110296800	Enhancers	NH-A	brain
22	chr3:110295600-110297000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:110295800-110296200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:110295800-110296200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:110295800-110296200	Enhancers	Gastric	stomach
26	chr3:110295800-110296200	Flanking Active TSS	A549	lung
27	chr3:110295800-110296600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:110295800-110296800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:110295800-110297000	Enhancers	NHEK	skin
30	chr3:110295800-110297600	Enhancers	NHLF	lung
31	chr3:110296000-110296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:110296000-110296400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr3:110296000-110296400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:110296000-110296600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:110296000-110296600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:110296000-110296600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:110296000-110296600	Enhancers	Pancreas	Pancrea
38	chr3:110296000-110296600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr3:110296000-110296600	Enhancers	HMEC	breast
40	chr3:110296000-110297000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:110296000-110297200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:110296000-110297200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:110296000-110299400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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