Variant report

Variant	rs71579500
Chromosome Location	chr5:114767424-114767425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519408	0.85[EUR][1000 genomes]
rs12514425	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12514865	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519685	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13162303	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17137802	0.84[EUR][1000 genomes]
rs35615508	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67370339	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71579498	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71579499	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72815270	0.91[EUR][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114759800-114767800	Weak transcription	Esophagus	oesophagus
2	chr5:114762400-114770200	Weak transcription	Left Ventricle	heart
3	chr5:114762600-114767800	Weak transcription	HSMM	muscle
4	chr5:114762600-114776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:114762800-114768200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:114762800-114768200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:114762800-114771600	Weak transcription	NHLF	lung
8	chr5:114765400-114768200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:114765400-114768400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114765600-114770200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:114765600-114774400	Weak transcription	NHDF-Ad	bronchial
12	chr5:114765800-114768000	Enhancers	NHEK	skin
13	chr5:114765800-114768200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:114765800-114771200	Weak transcription	Osteobl	bone
15	chr5:114766000-114768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:114766000-114768000	Enhancers	Pancreas	Pancrea
17	chr5:114766000-114768400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:114766000-114769200	Weak transcription	Stomach Mucosa	stomach
19	chr5:114766000-114770800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:114766400-114768400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:114766400-114770800	Weak transcription	Aorta	Aorta
22	chr5:114767000-114768000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:114767000-114771000	Weak transcription	HMEC	breast
24	chr5:114767000-114774400	Weak transcription	Gastric	stomach
25	chr5:114767200-114769600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:114767200-114769800	Weak transcription	Psoas Muscle	Psoas
27	chr5:114767200-114771200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:114767400-114767800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:114767400-114767800	Weak transcription	Stomach Smooth Muscle	stomach

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