Variant report

Variant	rs73708493
Chromosome Location	chr7:79716981-79716982
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10231925	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10237290	0.83[AMR][1000 genomes]
rs10237415	0.83[AMR][1000 genomes]
rs10238912	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10242482	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10247323	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10260857	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11974166	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977309	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11977332	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12333681	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28630699	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34872162	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35802637	0.90[AFR][1000 genomes]
rs55687904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56330158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56361294	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56761500	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57082352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57137296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57291254	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58876952	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59312847	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61390031	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61586173	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73374533	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374541	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374589	0.83[AFR][1000 genomes]
rs73374591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73376508	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73376538	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73376541	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73376565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378605	1.00[AMR][1000 genomes]
rs73708417	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73708491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv607678	chr7:79665817-79726578	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79714800-79717200	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:79715800-79717200	Enhancers	Placenta	Placenta
3	chr7:79716000-79720800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:79716400-79717000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:79716400-79717000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:79716400-79717000	Enhancers	HepG2	liver
7	chr7:79716400-79717000	Enhancers	HMEC	breast
8	chr7:79716400-79717400	Enhancers	Fetal Muscle Leg	muscle
9	chr7:79716400-79717400	Enhancers	HSMMtube	muscle
10	chr7:79716400-79717400	Flanking Active TSS	Osteobl	bone
11	chr7:79716400-79717600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:79716400-79717600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr7:79716400-79717800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:79716400-79718200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:79716400-79718200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:79716400-79718400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:79716400-79718400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:79716400-79718600	Enhancers	Fetal Lung	lung
19	chr7:79716400-79718800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:79716600-79717000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:79716600-79717000	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr7:79716600-79717000	Enhancers	Fetal Brain Male	brain
23	chr7:79716600-79717000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:79716600-79717000	Active TSS	Stomach Smooth Muscle	stomach
25	chr7:79716600-79717000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr7:79716600-79717200	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr7:79716600-79717200	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:79716600-79717400	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:79716600-79717400	Flanking Active TSS	NHLF	lung
30	chr7:79716600-79718200	Enhancers	Fetal Stomach	stomach
31	chr7:79716600-79718400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:79716600-79718400	Enhancers	HSMM	muscle
33	chr7:79716600-79719200	Enhancers	Ovary	ovary
34	chr7:79716800-79717000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:79716800-79717000	Flanking Active TSS	NH-A	brain
36	chr7:79716800-79717200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:79716800-79717200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:79716800-79719800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:79716800-79720400	Enhancers	NHEK	skin

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