Variant report

Variant	rs12212419
Chromosome Location	chr6:73372369-73372370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10484913	1.00[ASN][1000 genomes]
rs10485213	1.00[ASN][1000 genomes]
rs10943043	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10943045	0.82[EUR][1000 genomes]
rs10943048	1.00[ASN][1000 genomes]
rs10943050	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943051	1.00[ASN][1000 genomes]
rs10943055	1.00[ASN][1000 genomes]
rs10943057	1.00[ASN][1000 genomes]
rs10943058	1.00[ASN][1000 genomes]
rs11758568	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11759937	1.00[ASN][1000 genomes]
rs12189933	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12189974	1.00[ASN][1000 genomes]
rs12190091	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12190092	0.82[EUR][1000 genomes]
rs12191039	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191216	1.00[ASN][1000 genomes]
rs12191848	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192751	1.00[ASN][1000 genomes]
rs12193274	0.82[EUR][1000 genomes]
rs12194741	0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195259	0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196826	0.82[EUR][1000 genomes]
rs12197962	1.00[ASN][1000 genomes]
rs12199549	0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200908	1.00[ASN][1000 genomes]
rs12201380	0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203288	0.82[EUR][1000 genomes]
rs12204139	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204989	1.00[ASN][1000 genomes]
rs12205374	1.00[ASN][1000 genomes]
rs12208907	1.00[ASN][1000 genomes]
rs12210850	0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211580	1.00[ASN][1000 genomes]
rs12212268	1.00[ASN][1000 genomes]
rs12212562	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212818	0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214096	0.82[EUR][1000 genomes]
rs12214894	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12214895	1.00[ASN][1000 genomes]
rs12215865	1.00[ASN][1000 genomes]
rs12374630	1.00[ASN][1000 genomes]
rs12374631	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692715	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17729195	1.00[ASN][1000 genomes]
rs17796704	1.00[ASN][1000 genomes]
rs1928153	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821312	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56086224	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62411986	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411990	1.00[ASN][1000 genomes]
rs6453591	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6453592	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6453593	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6453594	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6931918	1.00[ASN][1000 genomes]
rs6935174	1.00[ASN][1000 genomes]
rs719830	1.00[ASN][1000 genomes]
rs72935423	1.00[ASN][1000 genomes]
rs7748594	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768673	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7772197	1.00[ASN][1000 genomes]
rs7776215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1794408	chr6:73363298-73419987	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv463152	chr6:73369739-73406890	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv603692	chr6:73369739-73406890	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73359600-73373000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73359600-73398800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:73359800-73386800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73360400-73372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:73362600-73379200	Weak transcription	Psoas Muscle	Psoas
6	chr6:73364400-73383200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:73365000-73375200	Weak transcription	GM12878-XiMat	blood
8	chr6:73367800-73373000	Weak transcription	HMEC	breast
9	chr6:73367800-73376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:73371600-73372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:73371600-73372800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:73372000-73386800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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