Variant report

Variant	rs12478365
Chromosome Location	chr2:63681089-63681090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10496102	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12464471	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12470478	0.81[ASN][1000 genomes]
rs12476015	0.84[AFR][1000 genomes]
rs17617855	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4671062	0.85[ASN][1000 genomes]
rs4671522	0.84[AFR][1000 genomes]
rs56219461	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72806004	0.83[ASN][1000 genomes]
rs72806010	0.81[ASN][1000 genomes]
rs72821624	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72821628	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821630	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821631	0.87[ASN][1000 genomes]
rs72821632	0.87[ASN][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	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
2	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
3	chr2:63662000-63698000	Weak transcription	Ovary	ovary
4	chr2:63662200-63681400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:63662800-63688000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:63666400-63688000	Weak transcription	Primary B cells from cord blood	blood
7	chr2:63666600-63726800	Weak transcription	Gastric	stomach
8	chr2:63668200-63684800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:63673600-63697800	Weak transcription	Left Ventricle	heart
10	chr2:63674400-63693200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:63675800-63712000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:63678000-63681400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:63680200-63683200	Weak transcription	Fetal Stomach	stomach
14	chr2:63680400-63698400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:63680600-63683400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:63680600-63685000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:63680600-63705800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:63680800-63686800	Weak transcription	Lung	lung
19	chr2:63681000-63681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:63681000-63681800	Weak transcription	Adipose Nuclei	Adipose

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