Variant report

Variant	rs718263
Chromosome Location	chr8:102976365-102976366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102970055..102972345-chr8:102973060..102976868,3	MCF-7	breast:
2	chr8:102975291..102976986-chr8:102979593..102982495,2	MCF-7	breast:
3	chr8:102971042..102973753-chr8:102975673..102978359,2	MCF-7	breast:
4	chr8:102974756..102976372-chr8:102978435..102981394,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10097554	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12545403	0.81[CEU][hapmap]
rs2119225	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2119226	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2387332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734601	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs479316	0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs484507	0.86[ASN][1000 genomes]
rs516608	0.81[CHB][hapmap]
rs573618	0.86[ASN][1000 genomes]
rs6468804	0.81[CEU][hapmap]
rs6982161	0.95[GIH][hapmap];0.80[TSI][hapmap]
rs7003289	0.89[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs718262	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820497	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840045	0.80[LWK][hapmap];0.90[YRI][hapmap]
rs9297315	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs9297316	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs993639	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs995584	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs718263	NCALD	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:102969200-102979600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:102970400-102979600	Weak transcription	Left Ventricle	heart
4	chr8:102970400-102980800	Weak transcription	Psoas Muscle	Psoas
5	chr8:102970800-102979800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:102971800-102979200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:102972600-102979400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:102974800-102979200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:102974800-102979400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:102974800-102979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:102974800-102979600	Weak transcription	Aorta	Aorta
12	chr8:102974800-102979600	Weak transcription	Ovary	ovary
13	chr8:102974800-102979600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:102976000-102992000	Weak transcription	Right Ventricle	heart

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