Variant report

Variant	rs10247465
Chromosome Location	chr7:103356373-103356374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103354410..103357861-chr7:103367523..103371715,4	K562	blood:
2	chr7:103353358..103354892-chr7:103355779..103358265,2	K562	blood:
3	chr7:103334170..103337101-chr7:103355075..103357693,2	K562	blood:
4	chr7:103348920..103351785-chr7:103353040..103357601,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10265101	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819457	0.91[ASN][1000 genomes]
rs3919520	0.82[JPT][hapmap]
rs491263	0.85[JPT][hapmap]
rs496535	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs505394	0.85[JPT][hapmap]
rs517761	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs539327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs554350	0.85[JPT][hapmap]
rs607755	0.80[GIH][hapmap]
rs626065	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631929	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs634500	0.84[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap]
rs635245	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs637872	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs649310	0.85[JPT][hapmap]
rs651097	0.80[GIH][hapmap]
rs756670	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7799028	0.90[LWK][hapmap];0.86[MKK][hapmap]
rs916603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10247465	SLC34A2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103339000-103359600	Weak transcription	K562	blood
2	chr7:103350800-103358200	Weak transcription	Hela-S3	cervix
3	chr7:103350800-103358600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:103351200-103359000	Weak transcription	NHDF-Ad	bronchial
5	chr7:103351400-103359600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:103352600-103358000	Weak transcription	HUVEC	blood vessel
7	chr7:103354600-103358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:103354600-103358800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:103355400-103374800	Weak transcription	HepG2	liver

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