Variant report

Variant	rs13014772
Chromosome Location	chr2:134594826-134594827
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13011368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35716511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71415578	1.00[AMR][1000 genomes];1.00[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	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134588200-134599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134591600-134595200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:134593400-134596000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:134593400-134596000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:134593400-134596400	Enhancers	NHLF	lung
6	chr2:134593600-134595800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:134593600-134596200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:134594000-134595800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:134594000-134596400	Enhancers	Osteobl	bone
10	chr2:134594000-134596600	Enhancers	NHDF-Ad	bronchial
11	chr2:134594200-134595800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:134594200-134596200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:134594200-134600000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:134594400-134595200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:134594400-134595400	Enhancers	HSMMtube	muscle
16	chr2:134594400-134599200	Weak transcription	Fetal Stomach	stomach
17	chr2:134594600-134595400	Enhancers	Lung	lung
18	chr2:134594600-134596000	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:134594600-134599200	Weak transcription	NH-A	brain
20	chr2:134594800-134595200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:134594800-134595400	Enhancers	HUVEC	blood vessel
22	chr2:134594800-134595400	Enhancers	NHEK	skin
23	chr2:134594800-134596000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:134594800-134596200	Enhancers	HSMM	muscle

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