Variant report

Variant	rs72714438
Chromosome Location	chr8:131917313-131917314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11776361	0.88[AFR][1000 genomes]
rs1435448	0.92[EUR][1000 genomes]
rs28380300	0.94[EUR][1000 genomes]
rs55755209	0.97[EUR][1000 genomes]
rs55821750	0.92[EUR][1000 genomes]
rs55840599	0.97[EUR][1000 genomes]
rs55947871	0.97[EUR][1000 genomes]
rs56250014	0.97[EUR][1000 genomes]
rs6470867	0.91[EUR][1000 genomes]
rs67973976	0.91[EUR][1000 genomes]
rs6986535	0.91[EUR][1000 genomes]
rs7001029	0.91[EUR][1000 genomes]
rs72712497	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72712501	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72712502	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714406	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714409	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714410	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714411	0.92[EUR][1000 genomes]
rs72714412	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714414	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714415	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72714430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714431	0.97[EUR][1000 genomes]
rs72714434	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72714452	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714475	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714477	0.97[EUR][1000 genomes]
rs72714479	0.97[EUR][1000 genomes]
rs72714480	0.97[EUR][1000 genomes]
rs72714481	0.97[EUR][1000 genomes]
rs7459542	0.97[EUR][1000 genomes]
rs7461547	0.92[EUR][1000 genomes]
rs7813636	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131912400-131917400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:131913600-131920800	Enhancers	NHDF-Ad	bronchial
3	chr8:131914400-131917600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:131914400-131920600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:131915200-131917800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:131915200-131918000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:131915200-131918400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:131915200-131919800	Enhancers	NHLF	lung
9	chr8:131915200-131920400	Enhancers	HMEC	breast
10	chr8:131915200-131920400	Enhancers	HSMM	muscle
11	chr8:131915200-131921200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:131915400-131917800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:131915400-131920200	Enhancers	Osteobl	bone
14	chr8:131915400-131920600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:131915600-131917600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:131915800-131917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:131915800-131919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:131915800-131920800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:131916000-131917600	Enhancers	Brain Angular Gyrus	brain
20	chr8:131916000-131917800	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:131916000-131920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:131916200-131917400	Enhancers	HUVEC	blood vessel
23	chr8:131916200-131917400	Flanking Active TSS	NHEK	skin
24	chr8:131916400-131917600	Enhancers	HSMMtube	muscle
25	chr8:131917000-131917800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:131917200-131917400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:131917200-131917600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:131917200-131917600	Enhancers	Fetal Heart	heart
29	chr8:131917200-131917600	Flanking Active TSS	NH-A	brain
30	chr8:131917200-131917800	Enhancers	Brain Hippocampus Middle	brain

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