Variant report

Variant	rs2523191
Chromosome Location	chr7:79792966-79792967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10252512	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12706672	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17147931	1.00[CEU][hapmap]
rs2428468	0.95[EUR][1000 genomes]
rs2428470	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428471	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523193	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523194	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523195	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523196	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714455	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714456	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714466	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489243	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4552840	0.87[EUR][1000 genomes]
rs60873462	0.80[EUR][1000 genomes]
rs6467043	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6969850	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs719057	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807610	1.00[CEU][hapmap];0.87[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79776200-79796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:79781200-79803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:79781600-79794200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:79781600-79795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:79781600-79797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:79783200-79794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:79783800-79806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:79785600-79794400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:79786200-79794200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:79786200-79796600	Weak transcription	NHEK	skin
11	chr7:79786200-79799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:79788000-79795200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:79788600-79799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:79788600-79799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:79788800-79794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:79788800-79796400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:79789400-79793000	Weak transcription	A549	lung
18	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:79790000-79793800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:79790200-79793200	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:79790600-79793200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:79790600-79793400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:79791200-79793000	Enhancers	Fetal Lung	lung
24	chr7:79791200-79794200	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:79791200-79799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:79791600-79801400	Weak transcription	Ovary	ovary
27	chr7:79791800-79793200	Enhancers	Brain Substantia Nigra	brain
28	chr7:79791800-79799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:79792000-79793000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:79792200-79794000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:79792200-79796000	Weak transcription	Adipose Nuclei	Adipose
32	chr7:79792200-79799000	Weak transcription	Gastric	stomach
33	chr7:79792400-79793000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:79792400-79794600	Weak transcription	Fetal Brain Male	brain
35	chr7:79792600-79793200	Enhancers	Brain Angular Gyrus	brain
36	chr7:79792800-79794200	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:79792800-79809000	Weak transcription	Fetal Kidney	kidney

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