Variant report

Variant	rs60412240
Chromosome Location	chr6:73398873-73398874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16882712	0.93[EUR][1000 genomes]
rs17692055	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17692606	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17748888	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17748966	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55791694	0.93[EUR][1000 genomes]
rs56897294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57822223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58599475	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58816739	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60620751	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62411982	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6453597	0.93[EUR][1000 genomes]
rs6918661	0.90[EUR][1000 genomes]
rs6938189	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73531872	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73533641	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73533649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73533670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73533685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535770	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73535771	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73537767	0.93[EUR][1000 genomes]
rs73537781	0.93[EUR][1000 genomes]
rs73756018	0.93[EUR][1000 genomes]
rs768790	0.81[EUR][1000 genomes]
rs7758797	0.91[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	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
7	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73377200-73399000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:73379400-73412600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:73381200-73403600	Weak transcription	Primary T cells from cord blood	blood
4	chr6:73382800-73414200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:73383600-73412200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:73384800-73399800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73385400-73412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:73386200-73399000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:73387200-73399000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:73392400-73429800	Weak transcription	HSMM	muscle
11	chr6:73395600-73408800	Weak transcription	HMEC	breast
12	chr6:73397000-73399400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:73398600-73399600	Active TSS	GM12878-XiMat	blood
14	chr6:73398800-73399200	Enhancers	Osteobl	bone
15	chr6:73398800-73399800	Enhancers	Primary B cells from peripheral blood	blood

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