Variant report

Variant	rs12476015
Chromosome Location	chr2:63807694-63807695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63805875..63809160-chr2:63811972..63815997,4	MCF-7	breast:
2	chr2:63805352..63808087-chr2:64066924..64068963,2	K562	blood:
3	chr2:63805352..63808565-chr2:64066924..64068963,3	K562	blood:

Variant related genes	Relation type
ENSG00000143951	Chromatin interaction
ENSG00000169764	Chromatin interaction
ENSG00000014641	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10496102	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1109027	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12463603	0.82[EUR][1000 genomes]
rs12464471	0.82[ASN][1000 genomes]
rs12470478	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12472865	0.82[EUR][1000 genomes]
rs12478365	0.84[AFR][1000 genomes]
rs17554675	0.83[EUR][1000 genomes]
rs17617855	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17618045	0.80[EUR][1000 genomes]
rs17618390	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17619354	0.83[EUR][1000 genomes]
rs2278718	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4567921	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671062	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4671522	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56219461	0.83[ASN][1000 genomes]
rs6546023	0.83[EUR][1000 genomes]
rs72806004	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72806010	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72806027	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72806055	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806058	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806082	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72806089	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72806095	0.82[EUR][1000 genomes]
rs72821624	0.82[ASN][1000 genomes]
rs72821628	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72821630	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72821631	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72821632	0.89[EUR][1000 genomes];0.83[ASN][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	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
2	chr2:63789000-63808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:63789000-63808200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:63799200-63808200	Weak transcription	Aorta	Aorta
5	chr2:63801000-63814400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:63803600-63813400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:63803800-63808800	Weak transcription	Left Ventricle	heart
8	chr2:63804000-63808200	Weak transcription	Right Atrium	heart
9	chr2:63805600-63808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:63805800-63808400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:63806000-63813600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:63806200-63808200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:63806200-63810600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:63806200-63813600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:63806200-63814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:63806400-63813400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:63806400-63813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:63807000-63808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:63807200-63808800	Enhancers	Fetal Heart	heart
20	chr2:63807400-63808200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:63807600-63808000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:63807600-63808200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:63807600-63808200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:63807600-63808200	Enhancers	NHEK	skin
25	chr2:63807600-63809000	Enhancers	Osteobl	bone
26	chr2:63807600-63809200	Enhancers	Adipose Nuclei	Adipose
27	chr2:63807600-63809200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links