Variant report

Variant	rs56007401
Chromosome Location	chr3:69861186-69861187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11917130	0.84[ASN][1000 genomes]
rs11918650	0.81[ASN][1000 genomes]
rs1367370	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430604	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430609	0.84[ASN][1000 genomes]
rs1430610	0.84[ASN][1000 genomes]
rs1549745	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1549746	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1897159	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2014255	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2163326	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55735918	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55738162	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55808455	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55890624	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55946371	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56099248	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56155813	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56764448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56927902	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57317066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57634646	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57788691	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57829272	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58529025	0.80[EUR][1000 genomes]
rs58711181	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59487570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59846970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60438183	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61148813	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62250980	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62250981	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62250982	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62251009	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251012	0.82[ASN][1000 genomes]
rs62251019	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62251025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62251026	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62251027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62251029	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62251030	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251031	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251032	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251033	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251040	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62252174	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62252182	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62252218	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62252219	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62252226	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252228	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252229	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62252230	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62252232	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252233	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252234	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252237	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252238	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252239	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62252240	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62253174	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62253176	0.81[EUR][1000 genomes]
rs62253177	0.84[EUR][1000 genomes]
rs62253178	0.81[EUR][1000 genomes]
rs62253179	0.81[EUR][1000 genomes]
rs62253180	0.81[EUR][1000 genomes]
rs62253181	0.81[EUR][1000 genomes]
rs6797168	0.84[ASN][1000 genomes]
rs6800508	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6802804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6805306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7611020	0.83[ASN][1000 genomes]
rs7623486	0.83[EUR][1000 genomes]
rs7645126	0.83[ASN][1000 genomes]
rs7647683	0.82[ASN][1000 genomes]
rs7647742	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9829724	0.81[ASN][1000 genomes]
rs9831839	0.82[ASN][1000 genomes]
rs9836493	0.82[ASN][1000 genomes]
rs9867045	0.83[EUR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69849800-69869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:69857600-69862600	Enhancers	Colon Smooth Muscle	Colon
3	chr3:69858000-69862800	Weak transcription	HUVEC	blood vessel
4	chr3:69858800-69861200	Enhancers	Brain Substantia Nigra	brain
5	chr3:69859800-69861200	Enhancers	Brain Anterior Caudate	brain
6	chr3:69859800-69861400	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:69859800-69861600	Enhancers	Brain Hippocampus Middle	brain
8	chr3:69859800-69866400	Enhancers	Fetal Heart	heart
9	chr3:69860400-69861200	Enhancers	Brain Angular Gyrus	brain
10	chr3:69860400-69861200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:69860400-69861200	Enhancers	Right Atrium	heart
12	chr3:69860400-69861200	Enhancers	Right Ventricle	heart
13	chr3:69860400-69861200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr3:69860400-69861200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:69860400-69861600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:69860400-69861600	Enhancers	Psoas Muscle	Psoas
17	chr3:69860400-69861600	Enhancers	K562	blood
18	chr3:69860400-69862000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:69860400-69862200	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:69860600-69861200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:69860600-69861200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:69860600-69861200	Enhancers	Adipose Nuclei	Adipose
23	chr3:69860600-69861200	Enhancers	Aorta	Aorta
24	chr3:69860600-69861600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr3:69860600-69862600	Enhancers	Ovary	ovary
26	chr3:69860600-69869800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:69860800-69861200	Enhancers	Esophagus	oesophagus
28	chr3:69860800-69861200	Enhancers	Gastric	stomach
29	chr3:69860800-69861200	Enhancers	Pancreas	Pancrea
30	chr3:69860800-69861200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr3:69860800-69861400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:69860800-69861400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr3:69860800-69861600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr3:69861000-69861200	Enhancers	Fetal Lung	lung
35	chr3:69861000-69861400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:69861000-69861600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:69861000-69861600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr3:69861000-69861600	Enhancers	Stomach Smooth Muscle	stomach
39	chr3:69861000-69863600	Weak transcription	Left Ventricle	heart

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