Variant report

Variant	rs62523852
Chromosome Location	chr8:130725280-130725281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130719927..130722565-chr8:130723755..130726675,2	MCF-7	breast:
2	chr8:130724777..130726937-chr8:130738994..130740773,2	K562	blood:
3	chr8:130721029..130723097-chr8:130725235..130727750,2	K562	blood:
4	chr8:128748320..128750405-chr8:130724803..130726595,2	K562	blood:
5	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10092357	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10110842	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10111157	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10217049	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777392	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481753	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600794	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17190932	0.86[ASN][1000 genomes]
rs1842793	0.86[ASN][1000 genomes]
rs2086639	0.86[ASN][1000 genomes]
rs2086640	0.86[ASN][1000 genomes]
rs2101163	0.86[ASN][1000 genomes]
rs28558572	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28855534	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28892959	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3885952	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3963418	0.86[ASN][1000 genomes]
rs4385436	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4501554	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606023	0.86[ASN][1000 genomes]
rs4733558	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733559	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733730	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733731	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733735	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733736	0.86[ASN][1000 genomes]
rs55654760	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59192669	0.86[ASN][1000 genomes]
rs60977383	0.86[ASN][1000 genomes]
rs61071273	0.86[ASN][1000 genomes]
rs62523855	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523857	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7461495	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297800	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs967974	0.86[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	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891447	chr8:130724556-130754719	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr8:130719800-130725600	Enhancers	K562	blood
2	chr8:130720800-130725600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:130721600-130725400	Weak transcription	HSMMtube	muscle
4	chr8:130721600-130725600	Weak transcription	Fetal Stomach	stomach
5	chr8:130723200-130734600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130723400-130725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:130723400-130726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:130723400-130740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:130723600-130725600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:130724000-130725400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:130724000-130726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:130724600-130726800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:130724600-130727800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:130724800-130726600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:130725000-130725400	Enhancers	Fetal Lung	lung
16	chr8:130725000-130725600	Enhancers	Placenta	Placenta
17	chr8:130725000-130725800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:130725200-130725400	Enhancers	HSMM	muscle
19	chr8:130725200-130726000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:130725200-130726200	Enhancers	NHDF-Ad	bronchial

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