Variant report

Variant	rs2714456
Chromosome Location	chr7:79787128-79787129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10252512	0.92[EUR][1000 genomes]
rs12706672	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2428468	0.91[EUR][1000 genomes]
rs2428470	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428471	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523191	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523193	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523194	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523195	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523196	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714455	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714466	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489243	0.83[EUR][1000 genomes]
rs4552840	0.83[EUR][1000 genomes]
rs6467043	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6969850	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs719057	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807610	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79775600-79787800	Weak transcription	Esophagus	oesophagus
2	chr7:79775600-79787800	Enhancers	Fetal Lung	lung
3	chr7:79776200-79796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:79777600-79791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:79780400-79791400	Weak transcription	Psoas Muscle	Psoas
6	chr7:79780600-79788200	Weak transcription	Ovary	ovary
7	chr7:79781000-79788200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:79781200-79787800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:79781200-79803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:79781600-79789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:79781600-79794200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:79781600-79795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:79781600-79797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:79783200-79794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:79783600-79788200	Weak transcription	Gastric	stomach
16	chr7:79783600-79789600	Weak transcription	Left Ventricle	heart
17	chr7:79783600-79791200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:79783800-79787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:79783800-79788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:79783800-79806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:79784000-79788000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:79784000-79792000	Weak transcription	Fetal Kidney	kidney
23	chr7:79784600-79790600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:79784800-79788800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:79784800-79791400	Enhancers	Brain Substantia Nigra	brain
26	chr7:79785200-79789600	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:79785200-79791200	Weak transcription	NHDF-Ad	bronchial
28	chr7:79785400-79788600	Weak transcription	Liver	Liver
29	chr7:79785600-79787400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:79785600-79794400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:79786000-79787400	Weak transcription	Brain Anterior Caudate	brain
32	chr7:79786200-79787600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:79786200-79788600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:79786200-79791800	Weak transcription	Fetal Brain Male	brain
35	chr7:79786200-79794200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:79786200-79796600	Weak transcription	NHEK	skin
37	chr7:79786200-79799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:79786400-79787800	Weak transcription	Brain Angular Gyrus	brain
39	chr7:79786400-79788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:79786400-79788200	Weak transcription	Adipose Nuclei	Adipose
41	chr7:79786400-79788400	Weak transcription	Fetal Brain Female	brain
42	chr7:79786400-79788800	Weak transcription	A549	lung
43	chr7:79786400-79790600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:79786600-79787400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:79786600-79788200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:79786600-79789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:79786800-79787400	Enhancers	HMEC	breast
48	chr7:79786800-79787600	Enhancers	NHLF	lung
49	chr7:79786800-79788800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:79786800-79790000	Enhancers	Brain Inferior Temporal Lobe	brain

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