Variant report

Variant	rs10953457
Chromosome Location	chr7:104552636-104552637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10216243	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10226456	0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs10236552	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10237433	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10238498	0.84[ASN][1000 genomes]
rs10247246	0.85[CHB][hapmap]
rs10247944	0.86[ASN][1000 genomes]
rs10250365	0.86[CHB][hapmap]
rs10253341	0.88[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256308	0.81[CHB][hapmap]
rs10257360	0.84[ASN][1000 genomes]
rs10259925	0.86[CHB][hapmap]
rs10266362	0.93[ASN][1000 genomes]
rs10273609	0.83[ASN][1000 genomes]
rs10274240	0.83[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10280365	0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10281485	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10953454	0.86[CHB][hapmap]
rs10953455	0.81[CHB][hapmap]
rs12534673	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12535201	0.86[CHB][hapmap]
rs12537945	0.94[ASN][1000 genomes]
rs12670275	0.84[ASN][1000 genomes]
rs12672211	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12705281	0.86[CHB][hapmap]
rs13225632	0.94[ASN][1000 genomes]
rs1468813	0.90[CHB][hapmap]
rs17777379	0.86[CHB][hapmap]
rs17777439	0.85[CHB][hapmap]
rs2285533	0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2465065	0.85[CHB][hapmap]
rs28478615	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28587189	0.84[ASN][1000 genomes]
rs34171467	0.88[ASN][1000 genomes]
rs35146170	0.86[CHB][hapmap]
rs35336178	0.83[EUR][1000 genomes]
rs35362363	0.82[EUR][1000 genomes]
rs35756879	0.82[ASN][1000 genomes]
rs35988800	0.83[ASN][1000 genomes]
rs6949139	0.87[ASW][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs71562628	0.85[EUR][1000 genomes]
rs7779117	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7781864	0.86[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10953457	ATXN7L1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104535000-104557000	Weak transcription	Fetal Kidney	kidney
2	chr7:104549200-104552800	Strong transcription	Duodenum Mucosa	Duodenum
3	chr7:104549800-104558800	Strong transcription	Fetal Intestine Small	intestine
4	chr7:104550200-104558400	Strong transcription	Fetal Intestine Large	intestine
5	chr7:104552600-104563400	Weak transcription	Pancreas	Pancrea

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