Variant report

Variant	rs62520923
Chromosome Location	chr8:124622876-124622877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124619293..124622384-chr8:124622665..124625911,4	MCF-7	breast:
2	chr8:124621170..124625679-chr8:124625859..124629573,5	K562	blood:
3	chr8:124621417..124623503-chr8:124631883..124634146,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253286	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087106	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs140613	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17254069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17254421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17255071	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17338860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17340040	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62518433	0.92[AMR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520871	1.00[AMR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520906	0.83[AMR][1000 genomes]
rs62520908	1.00[AMR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520924	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7827608	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];1.00[AMR][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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124610400-124628000	Weak transcription	Aorta	Aorta
2	chr8:124610400-124630000	Weak transcription	Right Atrium	heart
3	chr8:124619200-124629800	Weak transcription	Ovary	ovary
4	chr8:124621400-124624000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:124621400-124624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:124622000-124624000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124622200-124624600	Weak transcription	Pancreas	Pancrea
8	chr8:124622600-124624600	Weak transcription	K562	blood
9	chr8:124622800-124623000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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