Variant report

Variant	rs71317820
Chromosome Location	chr3:23293489-23293490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12106681	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13060112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13060251	0.85[EUR][1000 genomes]
rs13063185	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13067514	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13073761	0.93[AMR][1000 genomes]
rs13078970	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13084250	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13087238	0.93[AMR][1000 genomes]
rs13087563	0.85[EUR][1000 genomes]
rs13090633	0.84[EUR][1000 genomes]
rs13092830	0.81[EUR][1000 genomes]
rs13099586	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13100605	0.85[EUR][1000 genomes]
rs34259979	0.81[EUR][1000 genomes]
rs34443476	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34474308	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34504120	0.87[AMR][1000 genomes]
rs34513914	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34584255	0.85[EUR][1000 genomes]
rs34619482	0.93[AMR][1000 genomes]
rs34743949	0.82[EUR][1000 genomes]
rs34894979	0.81[AMR][1000 genomes]
rs34916096	0.81[AMR][1000 genomes]
rs34928966	0.81[AMR][1000 genomes]
rs35096750	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35218978	0.81[AMR][1000 genomes]
rs35230557	0.82[AMR][1000 genomes]
rs35240920	0.85[EUR][1000 genomes]
rs35245309	0.81[AMR][1000 genomes]
rs35266274	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35314441	0.81[AMR][1000 genomes]
rs35346188	0.85[EUR][1000 genomes]
rs35402533	0.82[EUR][1000 genomes]
rs35408638	0.81[AMR][1000 genomes]
rs35587590	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35776486	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35869522	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35892300	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35902312	0.93[AMR][1000 genomes]
rs35907941	0.81[AMR][1000 genomes]
rs35928592	0.82[AMR][1000 genomes]
rs36060079	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36123979	0.85[EUR][1000 genomes]
rs36124326	0.81[AMR][1000 genomes]
rs71317817	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71317819	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71317821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71317822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71317823	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71317824	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71317827	0.85[EUR][1000 genomes]
rs71317829	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71322171	0.82[EUR][1000 genomes]
rs71322174	0.81[AMR][1000 genomes]
rs71322184	0.81[AMR][1000 genomes]
rs71322187	0.81[AMR][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	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1014701	chr3:23257658-23416094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv589947	chr3:23277838-23403943	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv589948	chr3:23287141-23390221	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23274800-23298200	Weak transcription	Aorta	Aorta
2	chr3:23281400-23298200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:23282200-23294600	Weak transcription	A549	lung
4	chr3:23283200-23296000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:23283600-23302200	Weak transcription	Left Ventricle	heart
6	chr3:23289000-23294800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:23290400-23295800	Weak transcription	Adipose Nuclei	Adipose
8	chr3:23290600-23298200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:23290800-23294800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:23291600-23298400	Weak transcription	Spleen	Spleen
11	chr3:23291800-23298200	Weak transcription	Thymus	Thymus
12	chr3:23292200-23298800	Weak transcription	Primary T cells from cord blood	blood
13	chr3:23292400-23293600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:23292400-23293600	Enhancers	Brain Substantia Nigra	brain
15	chr3:23292400-23293800	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:23292400-23296200	Enhancers	Brain Hippocampus Middle	brain
17	chr3:23292600-23295000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:23292800-23294000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:23292800-23294800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:23292800-23295600	Weak transcription	Brain Anterior Caudate	brain
21	chr3:23292800-23295800	Weak transcription	Pancreas	Pancrea
22	chr3:23292800-23298400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:23292800-23304200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:23292800-23306800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:23293000-23293800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:23293000-23295800	Weak transcription	Lung	lung
27	chr3:23293000-23295800	Weak transcription	Psoas Muscle	Psoas
28	chr3:23293000-23298600	Weak transcription	Osteobl	bone
29	chr3:23293000-23303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:23293200-23293600	Weak transcription	Brain Angular Gyrus	brain
31	chr3:23293200-23299400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:23293400-23293600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:23293400-23293800	Enhancers	NHDF-Ad	bronchial

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