Variant report

Variant	rs10956153
Chromosome Location	chr8:124909281-124909282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124908341..124910827-chr8:124923063..124925979,2	K562	blood:
2	chr8:124901095..124905253-chr8:124905623..124909298,4	MCF-7	breast:
3	chr8:124905153..124906934-chr8:124908337..124910194,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10089499	0.82[CEU][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10089757	0.82[CEU][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10103366	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap]
rs10110548	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956154	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956155	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956156	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779980	0.95[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782845	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11787464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12541526	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544278	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs12548182	0.90[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548510	0.91[CEU][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1816368	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28425543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28703921	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28829655	0.80[AMR][1000 genomes]
rs61030560	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998986	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs7823205	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs7844410	0.95[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9656949	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10956153	MRPL13	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124907000-124909600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:124907400-124909800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:124907400-124909800	Enhancers	NHDF-Ad	bronchial
4	chr8:124907800-124910000	Weak transcription	Liver	Liver
5	chr8:124908200-124909600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:124908400-124909600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:124908400-124909600	Enhancers	Hela-S3	cervix
8	chr8:124908400-124909800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:124908600-124909800	Enhancers	NHEK	skin
10	chr8:124908600-124910000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:124909000-124909400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:124909000-124909400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:124909000-124909400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124909000-124909400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:124909000-124909600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:124909000-124909600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:124909200-124909600	Enhancers	H9 Cell Line	embryonic stem cell

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