Variant report

Variant	rs17595367
Chromosome Location	chr12:60546672-60546673
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	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:
2	chr12:60545261..60548162-chr12:60566803..60568706,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10506408	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784027	0.84[EUR][1000 genomes]
rs10784028	0.87[EUR][1000 genomes]
rs10877392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11173327	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11173328	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173329	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173336	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173337	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11173338	0.86[EUR][1000 genomes]
rs11173339	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173340	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173341	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173343	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173345	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173346	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173351	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11173359	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173361	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173367	0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173386	0.83[ASN][1000 genomes]
rs12226976	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12227514	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12228823	0.82[ASN][1000 genomes]
rs12230599	0.81[ASN][1000 genomes]
rs12230817	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231312	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231943	0.82[ASN][1000 genomes]
rs1319775	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1389255	0.86[EUR][1000 genomes]
rs1493325	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1504442	0.83[ASN][1000 genomes]
rs1504443	0.83[ASN][1000 genomes]
rs17595010	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17595325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17602381	0.96[ASN][1000 genomes]
rs17665306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014074	0.87[EUR][1000 genomes]
rs3847662	0.87[EUR][1000 genomes]
rs3847663	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs3907482	0.85[EUR][1000 genomes]
rs4093759	0.86[EUR][1000 genomes]
rs4143650	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4265627	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4417318	0.86[ASN][1000 genomes]
rs4454757	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4491264	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567505	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758743	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758744	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758745	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758859	0.82[ASN][1000 genomes]
rs55661627	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61127975	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61487567	0.82[ASN][1000 genomes]
rs61922947	0.92[ASN][1000 genomes]
rs61922949	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61922950	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61923065	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923066	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923067	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923074	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61923092	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61923093	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61923121	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61923124	0.83[ASN][1000 genomes]
rs61923127	0.83[ASN][1000 genomes]
rs61923129	0.83[ASN][1000 genomes]
rs61923130	0.82[ASN][1000 genomes]
rs61923132	0.82[ASN][1000 genomes]
rs61923156	0.81[ASN][1000 genomes]
rs61923157	0.81[ASN][1000 genomes]
rs61925366	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6581305	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66587505	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7131926	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134267	0.82[ASN][1000 genomes]
rs7134663	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7135031	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs72648145	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298315	0.86[EUR][1000 genomes]
rs7300532	0.80[EUR][1000 genomes]
rs7310323	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314355	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957100	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967860	0.83[EUR][1000 genomes]
rs7973882	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977065	0.86[EUR][1000 genomes]
rs7977642	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7979069	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8181648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs959645	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9634280	0.83[ASN][1000 genomes]
rs9634281	0.83[ASN][1000 genomes]
rs9668893	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv559108	chr12:60518842-60548334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1851665	chr12:60522725-60549171	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60545600-60546800	Weak transcription	NHDF-Ad	bronchial
2	chr12:60545800-60546800	Enhancers	NHEK	skin
3	chr12:60545800-60548000	Enhancers	HMEC	breast
4	chr12:60545800-60548200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:60546200-60546800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:60546600-60547000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:60546600-60547000	Enhancers	Fetal Intestine Small	intestine

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