Variant report

Variant	rs62251040
Chromosome Location	chr3:69869384-69869385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1036051	0.81[ASN][1000 genomes]
rs1036052	0.81[ASN][1000 genomes]
rs1036053	0.81[ASN][1000 genomes]
rs11708183	0.81[ASN][1000 genomes]
rs11715024	0.81[ASN][1000 genomes]
rs11716900	0.83[ASN][1000 genomes]
rs11717837	0.81[ASN][1000 genomes]
rs12108009	0.81[ASN][1000 genomes]
rs13066535	0.81[ASN][1000 genomes]
rs13066581	0.81[ASN][1000 genomes]
rs13320443	0.83[ASN][1000 genomes]
rs13324851	0.83[ASN][1000 genomes]
rs13327273	0.83[ASN][1000 genomes]
rs1367370	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1367371	0.81[ASN][1000 genomes]
rs1430604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1430605	0.81[ASN][1000 genomes]
rs1549744	0.81[ASN][1000 genomes]
rs1549745	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1549746	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17006493	0.81[ASN][1000 genomes]
rs1812075	0.81[ASN][1000 genomes]
rs1897159	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2014255	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2082173	0.81[ASN][1000 genomes]
rs2116001	0.81[ASN][1000 genomes]
rs2163326	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217456	0.81[ASN][1000 genomes]
rs34162170	0.81[ASN][1000 genomes]
rs34579698	0.81[ASN][1000 genomes]
rs4582066	0.80[ASN][1000 genomes]
rs55735918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55738162	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55761397	0.81[ASN][1000 genomes]
rs55808455	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55890624	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55946371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56007401	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56099248	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56155813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56764448	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56927902	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57317066	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57634646	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57788691	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57829272	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58529025	0.81[EUR][1000 genomes]
rs58711181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59487570	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59846970	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60438183	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61148813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62250980	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62250981	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62250982	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62251009	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62251019	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62251025	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251026	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251027	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251029	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251030	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251031	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251032	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251033	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62252174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62252182	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62252217	0.81[ASN][1000 genomes]
rs62252218	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62252219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62252224	0.80[ASN][1000 genomes]
rs62252226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252229	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62252230	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62252232	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252233	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252234	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252237	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252238	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252239	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62252240	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62253174	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62253176	0.80[EUR][1000 genomes]
rs62253177	0.84[EUR][1000 genomes]
rs62253178	0.80[EUR][1000 genomes]
rs62253179	0.80[EUR][1000 genomes]
rs62253180	0.80[EUR][1000 genomes]
rs62253181	0.80[EUR][1000 genomes]
rs6764340	0.83[ASN][1000 genomes]
rs6800508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6802804	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6805306	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7623486	0.82[EUR][1000 genomes]
rs7642834	0.81[ASN][1000 genomes]
rs7647742	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs930135	0.81[ASN][1000 genomes]
rs9310172	0.81[ASN][1000 genomes]
rs9310173	0.81[ASN][1000 genomes]
rs9310176	0.81[ASN][1000 genomes]
rs9824497	0.81[ASN][1000 genomes]
rs9824528	0.81[ASN][1000 genomes]
rs9825023	0.81[ASN][1000 genomes]
rs9825799	0.81[ASN][1000 genomes]
rs9828215	0.81[ASN][1000 genomes]
rs9828924	0.81[ASN][1000 genomes]
rs9829056	0.81[ASN][1000 genomes]
rs9830086	0.81[ASN][1000 genomes]
rs9836493	0.81[ASN][1000 genomes]
rs9836575	0.81[ASN][1000 genomes]
rs9838601	0.83[ASN][1000 genomes]
rs9839093	0.83[ASN][1000 genomes]
rs9839120	0.83[ASN][1000 genomes]
rs9845679	0.81[ASN][1000 genomes]
rs9849488	0.81[ASN][1000 genomes]
rs9855804	0.81[ASN][1000 genomes]
rs9855819	0.81[ASN][1000 genomes]
rs9857999	0.84[ASN][1000 genomes]
rs9862205	0.83[ASN][1000 genomes]
rs9862680	0.83[ASN][1000 genomes]
rs9867045	0.82[EUR][1000 genomes]
rs9871883	0.83[ASN][1000 genomes]
rs9876482	0.81[ASN][1000 genomes]
rs9881217	0.81[ASN][1000 genomes]
rs9881320	0.81[ASN][1000 genomes]
rs9883334	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009045	chr3:69821621-69875782	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv963517	chr3:69851683-69877360	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69860600-69869800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:69863800-69872000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr3:69865600-69871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:69866400-69871400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:69866800-69871600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:69867000-69870600	Enhancers	Brain Substantia Nigra	brain
7	chr3:69867200-69871800	Enhancers	Fetal Heart	heart
8	chr3:69867400-69870600	Enhancers	Colon Smooth Muscle	Colon
9	chr3:69867400-69871400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:69867600-69871400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:69868200-69869400	Enhancers	Adipose Nuclei	Adipose
12	chr3:69868200-69870200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr3:69868200-69870800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:69868200-69870800	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:69868200-69872000	Enhancers	Brain Hippocampus Middle	brain
16	chr3:69868200-69875000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:69868400-69870200	Enhancers	Brain Angular Gyrus	brain
18	chr3:69868400-69870600	Enhancers	Fetal Muscle Leg	muscle
19	chr3:69868400-69870600	Enhancers	Right Ventricle	heart
20	chr3:69868400-69870800	Enhancers	Stomach Smooth Muscle	stomach
21	chr3:69868400-69871600	Enhancers	Brain Anterior Caudate	brain
22	chr3:69868400-69871600	Enhancers	Left Ventricle	heart
23	chr3:69868600-69869400	Enhancers	Ovary	ovary
24	chr3:69868600-69870200	Enhancers	Aorta	Aorta
25	chr3:69868600-69870800	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:69868600-69871200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:69868600-69871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:69869000-69869800	Weak transcription	Psoas Muscle	Psoas
29	chr3:69869000-69879000	Weak transcription	Right Atrium	heart
30	chr3:69869200-69870200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:69869200-69871000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:69869200-69879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:69869200-69879400	Weak transcription	Pancreas	Pancrea

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