Variant report

Variant	rs965427
Chromosome Location	chr12:60468478-60468479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60466885..60469119-chr12:60493136..60496064,3	MCF-7	breast:
2	chr12:60466814..60469463-chr12:60479017..60481348,2	MCF-7	breast:
3	chr12:60460447..60462196-chr12:60466989..60469396,2	K562	blood:
4	chr12:60464696..60468583-chr12:60490353..60494821,4	MCF-7	breast:
5	chr12:60459856..60461380-chr12:60466711..60469397,2	MCF-7	breast:
6	chr12:60468174..60469728-chr12:60471025..60473459,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10784018	0.92[AFR][1000 genomes]
rs10784021	0.92[AFR][1000 genomes]
rs10877379	0.89[AFR][1000 genomes]
rs10877382	0.92[AFR][1000 genomes]
rs10877384	0.92[AFR][1000 genomes]
rs2364702	0.83[AFR][1000 genomes]
rs3858533	1.00[AMR][1000 genomes]
rs4269958	0.94[AFR][1000 genomes]
rs4519124	0.84[AFR][1000 genomes]
rs4519125	0.92[AFR][1000 genomes]
rs4758851	0.85[AMR][1000 genomes]
rs6581289	0.83[AFR][1000 genomes]
rs6581291	0.85[AFR][1000 genomes]
rs6581292	0.92[AFR][1000 genomes]
rs7132957	0.85[AMR][1000 genomes]
rs7299084	0.92[AFR][1000 genomes]
rs7304102	0.92[AFR][1000 genomes]
rs8181702	0.83[AFR][1000 genomes]
rs903033	1.00[AMR][1000 genomes]
rs903034	0.85[AMR][1000 genomes]
rs903035	0.85[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60467000-60475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60467400-60469000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:60467600-60471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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