Variant report

Variant	rs60512267
Chromosome Location	chr6:27745800-27745801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27640023..27641609-chr6:27744727..27746412,2	K562	blood:
2	chr6:27461978..27463563-chr6:27744301..27746788,2	K562	blood:
3	chr6:27744761..27747867-chr6:27758538..27761675,3	MCF-7	breast:
4	chr6:27744586..27748272-chr6:27756903..27759108,3	MCF-7	breast:
5	chr6:27519208..27521842-chr6:27743894..27746094,2	K562	blood:
6	chr6:27739073..27741027-chr6:27745777..27747654,2	MCF-7	breast:
7	chr6:27106342..27108583-chr6:27745560..27747825,2	K562	blood:
8	chr6:27483274..27486299-chr6:27743798..27746075,3	K562	blood:
9	chr6:27481158..27483967-chr6:27745057..27747671,2	K562	blood:
10	chr6:27461978..27464683-chr6:27744618..27746788,2	K562	blood:
11	chr6:27114542..27117845-chr6:27741589..27745932,6	K562	blood:
12	chr6:27100313..27102591-chr6:27743747..27746593,3	K562	blood:
13	chr6:27745777..27747723-chr6:27753889..27756682,2	MCF-7	breast:
14	chr6:27113969..27118292-chr6:27739764..27746039,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270666	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55761446	1.00[AMR][1000 genomes]
rs55810724	1.00[AMR][1000 genomes]
rs56096322	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56358872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57044733	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57270702	1.00[AMR][1000 genomes]
rs57606279	1.00[AMR][1000 genomes]
rs58040059	1.00[AMR][1000 genomes]
rs58677321	1.00[AMR][1000 genomes]
rs60242525	1.00[AMR][1000 genomes]
rs60542036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60566574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61499563	1.00[AMR][1000 genomes]
rs73739605	1.00[AMR][1000 genomes]
rs73739607	1.00[AMR][1000 genomes]
rs73739608	1.00[AMR][1000 genomes]
rs73739609	1.00[AMR][1000 genomes]
rs73739686	1.00[AMR][1000 genomes]
rs73739687	1.00[AMR][1000 genomes]
rs73739689	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739696	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740808	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740819	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740835	1.00[AMR][1000 genomes]
rs73740839	1.00[AMR][1000 genomes]
rs73740871	1.00[AMR][1000 genomes]
rs73740872	1.00[AMR][1000 genomes]
rs73740874	1.00[AMR][1000 genomes]
rs73741616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73741618	1.00[AFR][1000 genomes]
rs73741620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73741622	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73741623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9767465	1.00[AMR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 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	chr6:27743600-27750000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:27744200-27746400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:27745200-27745800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:27745200-27746000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:27745200-27746200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:27745600-27745800	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:27745600-27745800	Enhancers	GM12878-XiMat	blood
8	chr6:27745600-27746000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:27745600-27746000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:27745600-27746000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:27745600-27746600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:27745600-27746600	Weak transcription	A549	lung
13	chr6:27745600-27746600	Active TSS	K562	blood
14	chr6:27745600-27746800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:27745600-27753200	Weak transcription	HepG2	liver

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