Variant report

Variant	rs4723967
Chromosome Location	chr7:40552954-40552955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1000013	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1019018	0.95[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs10254954	1.00[CEU][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263677	0.95[GIH][hapmap];0.89[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10278801	1.00[JPT][hapmap]
rs10429076	0.84[AFR][1000 genomes]
rs10486810	0.89[ASW][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10486811	0.82[ASW][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs11973006	0.91[LWK][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs11974322	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11980464	0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11982075	1.00[ASW][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12534250	1.00[JPT][hapmap]
rs12666860	1.00[JPT][hapmap]
rs1304795	1.00[JPT][hapmap]
rs16880235	1.00[JPT][hapmap]
rs16880239	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17171713	1.00[JPT][hapmap]
rs17171727	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17171730	0.89[ASW][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs17171733	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17171734	1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs17171751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17171752	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1859660	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2024014	1.00[JPT][hapmap]
rs2051919	1.00[JPT][hapmap]
rs2108189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2329776	1.00[JPT][hapmap]
rs2329818	0.90[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs2329819	0.89[ASW][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28657711	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34523428	0.90[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs3779136	1.00[JPT][hapmap]
rs3919491	0.84[EUR][1000 genomes]
rs4720367	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4720368	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4720370	0.95[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs4720371	1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4723966	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4723968	0.95[EUR][1000 genomes]
rs4723969	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4723970	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4723972	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs57268522	0.93[EUR][1000 genomes]
rs60011074	0.86[EUR][1000 genomes]
rs60999211	0.84[EUR][1000 genomes]
rs6462985	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6943787	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6945570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947887	1.00[JPT][hapmap]
rs6948724	0.83[ASW][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs6948900	0.82[LWK][hapmap];0.88[MKK][hapmap]
rs6954401	0.84[GIH][hapmap];0.94[TSI][hapmap]
rs6956277	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs6957636	1.00[JPT][hapmap]
rs6965918	1.00[JPT][hapmap]
rs6977104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73308254	0.95[EUR][1000 genomes]
rs73308257	0.95[EUR][1000 genomes]
rs73308260	0.91[EUR][1000 genomes]
rs73308263	0.91[EUR][1000 genomes]
rs73308264	0.88[EUR][1000 genomes]
rs73308269	0.87[EUR][1000 genomes]
rs73308281	0.85[EUR][1000 genomes]
rs73308284	0.86[EUR][1000 genomes]
rs73308289	0.88[EUR][1000 genomes]
rs73308291	0.84[EUR][1000 genomes]
rs73308300	0.84[EUR][1000 genomes]
rs73310208	0.81[EUR][1000 genomes]
rs7459324	0.88[TSI][hapmap]
rs7776976	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7784279	1.00[JPT][hapmap]
rs7789681	1.00[JPT][hapmap]
rs7808612	1.00[ASW][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.89[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7809620	1.00[JPT][hapmap]
rs917204	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830969	chr7:40422576-40582389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1017615	chr7:40445480-40570791	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	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
8	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4723967	C7orf36	cis	cerebellum	SCAN
rs4723967	POLD2	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40534000-40558600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:40552600-40553000	Enhancers	Aorta	Aorta
3	chr7:40552600-40560800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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