Variant report

Variant	rs17171734
Chromosome Location	chr7:40607390-40607391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40597862..40599690-chr7:40606345..40608569,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1000013	0.92[EUR][1000 genomes]
rs1019018	1.00[CEU][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs10251707	1.00[CHB][hapmap]
rs10254954	0.86[EUR][1000 genomes]
rs10256576	1.00[CEU][hapmap]
rs10263677	1.00[CEU][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10486810	1.00[CEU][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs11760535	1.00[CHB][hapmap]
rs11761250	1.00[CHB][hapmap]
rs11761336	1.00[CHB][hapmap]
rs11763592	1.00[CHB][hapmap]
rs11768774	1.00[CHB][hapmap]
rs11772576	1.00[CHB][hapmap]
rs11974322	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11980464	0.90[EUR][1000 genomes]
rs11982075	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs12155334	1.00[CHB][hapmap]
rs17171727	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17437429	1.00[CHB][hapmap]
rs17438052	1.00[CHB][hapmap]
rs17528214	1.00[CHB][hapmap]
rs17528582	1.00[CHB][hapmap]
rs1859660	0.90[EUR][1000 genomes]
rs2329818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2329819	1.00[CEU][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs28657711	0.91[EUR][1000 genomes]
rs34523428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3919491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4119077	1.00[CHB][hapmap]
rs4119078	1.00[CHB][hapmap]
rs4720368	0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4720370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720371	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4723966	0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723967	1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs4723968	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723969	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723970	1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4723972	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs57268522	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58275184	0.85[AFR][1000 genomes]
rs60011074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999211	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462985	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6462988	1.00[CHB][hapmap]
rs66582232	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66743443	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67081175	0.87[AFR][1000 genomes]
rs67156695	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67309967	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68082095	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6943787	0.94[EUR][1000 genomes]
rs6945570	0.86[EUR][1000 genomes]
rs6954401	1.00[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs6956181	1.00[CHB][hapmap]
rs6962853	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6977104	0.86[EUR][1000 genomes]
rs6977963	1.00[CHB][hapmap]
rs73308254	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73308257	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73308260	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73308263	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73308264	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308269	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308284	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308289	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73308291	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308300	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310208	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310222	0.85[AFR][1000 genomes]
rs73310225	0.85[AFR][1000 genomes]
rs73310227	0.85[AFR][1000 genomes]
rs73310231	0.85[AFR][1000 genomes]
rs7459324	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs7779570	1.00[CHB][hapmap]
rs7800409	1.00[CHB][hapmap]
rs7808612	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7812176	1.00[CHB][hapmap]
rs917204	0.89[EUR][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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17171734	POLD2	cis	parietal	SCAN
rs17171734	NOP16	trans	brain	seeQTL
rs17171734	C7orf36	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40596000-40608400	Weak transcription	Aorta	Aorta
2	chr7:40603200-40609600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:40604800-40608200	Enhancers	Fetal Heart	heart
4	chr7:40607000-40609800	Weak transcription	HSMM	muscle
5	chr7:40607200-40608400	Enhancers	Dnd41	blood
6	chr7:40607200-40611400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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