Variant report

Variant	rs12319593
Chromosome Location	chr12:86730496-86730497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10745407	0.81[JPT][hapmap]
rs10745408	0.81[JPT][hapmap]
rs10776955	0.81[JPT][hapmap]
rs10858408	0.81[JPT][hapmap]
rs10858415	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs11103930	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs11830208	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs11830448	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11835193	1.00[EUR][1000 genomes]
rs12302310	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12302551	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303046	0.88[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs12319410	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579580	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs12581639	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs12581912	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12582767	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1628799	1.00[JPT][hapmap]
rs1698787	0.81[JPT][hapmap]
rs17013858	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17013981	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17014005	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs17014008	1.00[JPT][hapmap]
rs17014009	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs17014020	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs17014026	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17040806	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs1986602	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1986603	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1994863	1.00[JPT][hapmap]
rs2141927	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2220782	0.81[JPT][hapmap]
rs2405793	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2405929	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405931	0.83[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs2406116	0.81[JPT][hapmap]
rs2406118	0.81[JPT][hapmap]
rs2406122	0.81[JPT][hapmap]
rs2406123	0.81[JPT][hapmap]
rs2406127	0.81[JPT][hapmap]
rs2406128	0.81[JPT][hapmap]
rs2406160	0.81[JPT][hapmap]
rs2452807	0.81[JPT][hapmap]
rs2465144	0.81[JPT][hapmap]
rs2471560	0.81[JPT][hapmap]
rs2471568	0.81[JPT][hapmap]
rs2471569	0.81[JPT][hapmap]
rs2897240	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2897274	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2897275	0.88[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs2897277	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs2897278	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4370997	0.81[JPT][hapmap]
rs4488269	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4526834	0.83[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs4636736	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56170210	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57002922	0.80[AMR][1000 genomes]
rs57977247	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58054764	1.00[EUR][1000 genomes]
rs59690693	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60555693	0.80[AMR][1000 genomes]
rs60902071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61014498	0.80[AMR][1000 genomes]
rs61359740	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61571841	1.00[EUR][1000 genomes]
rs61950714	0.93[ASN][1000 genomes]
rs6538023	1.00[JPT][hapmap]
rs6538024	1.00[JPT][hapmap]
rs6538025	0.81[JPT][hapmap]
rs6538029	0.81[JPT][hapmap]
rs7138352	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138786	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7301129	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs73385292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73385293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73387865	1.00[EUR][1000 genomes]
rs7953196	0.81[JPT][hapmap]
rs7953491	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7961251	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7964553	0.81[JPT][hapmap]
rs7973773	0.81[JPT][hapmap]
rs7980126	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs839104	0.81[JPT][hapmap]
rs839148	0.81[JPT][hapmap]
rs839149	0.81[JPT][hapmap]
rs839151	0.81[JPT][hapmap]
rs839152	0.84[JPT][hapmap]
rs839153	0.81[JPT][hapmap]
rs839156	0.81[JPT][hapmap]
rs839157	0.81[JPT][hapmap]
rs839158	0.80[JPT][hapmap]
rs839159	0.81[JPT][hapmap]
rs839162	1.00[JPT][hapmap]
rs839165	0.81[JPT][hapmap]
rs839166	0.81[JPT][hapmap]
rs839168	0.81[JPT][hapmap]
rs839171	0.81[JPT][hapmap]
rs844434	0.81[JPT][hapmap]
rs844435	0.81[JPT][hapmap]
rs863392	0.80[JPT][hapmap]
rs863395	0.81[JPT][hapmap]
rs865138	0.81[JPT][hapmap]
rs865721	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1053234	chr12:86701070-86774957	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86729400-86731800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:86730000-86730600	Enhancers	Fetal Heart	heart

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