Variant report

Variant	rs62252578
Chromosome Location	chr3:69589169-69589170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12489835	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12629703	0.82[ASN][1000 genomes]
rs12633054	1.00[ASN][1000 genomes]
rs12633166	0.82[ASN][1000 genomes]
rs62252577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62252579	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69583000-69590000	Weak transcription	Brain Angular Gyrus	brain
2	chr3:69585200-69589800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:69585400-69590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:69585400-69590000	Weak transcription	Spleen	Spleen
5	chr3:69585800-69590000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:69585800-69590000	Weak transcription	Right Atrium	heart
7	chr3:69586000-69589200	Enhancers	Brain Substantia Nigra	brain
8	chr3:69586400-69589800	Enhancers	Fetal Brain Male	brain
9	chr3:69587200-69590000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:69587400-69589800	Weak transcription	Brain Anterior Caudate	brain
11	chr3:69587600-69589600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:69587800-69589400	Flanking Active TSS	NHEK	skin
13	chr3:69587800-69589800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:69588000-69590000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:69588200-69589400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:69588400-69589400	Enhancers	HMEC	breast
17	chr3:69588600-69589800	Enhancers	Fetal Lung	lung
18	chr3:69588600-69590000	Weak transcription	Fetal Heart	heart
19	chr3:69588800-69590000	Weak transcription	Right Ventricle	heart
20	chr3:69588800-69590800	Active TSS	Fetal Brain Female	brain
21	chr3:69589000-69589200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:69589000-69589400	Enhancers	Brain Hippocampus Middle	brain
23	chr3:69589000-69590000	Weak transcription	Brain Cingulate Gyrus	brain

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