Variant report

Variant	rs2062860
Chromosome Location	chr12:67292441-67292442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67292063..67294236-chr12:67462037..67463720,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11832239	1.00[EUR][1000 genomes]
rs1252274	0.87[AMR][1000 genomes]
rs1252284	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1628206	0.87[AMR][1000 genomes]
rs17103084	1.00[EUR][1000 genomes]
rs17103108	1.00[EUR][1000 genomes]
rs2464268	0.87[AMR][1000 genomes]
rs57246267	1.00[EUR][1000 genomes]
rs57250913	1.00[EUR][1000 genomes]
rs7311891	1.00[EUR][1000 genomes]
rs73315209	1.00[EUR][1000 genomes]
rs73315213	1.00[EUR][1000 genomes]
rs73315223	1.00[EUR][1000 genomes]
rs73315226	1.00[EUR][1000 genomes]
rs73315253	1.00[EUR][1000 genomes]
rs73317181	1.00[EUR][1000 genomes]
rs73317201	1.00[EUR][1000 genomes]
rs73318916	1.00[EUR][1000 genomes]
rs73333072	1.00[EUR][1000 genomes]
rs73333073	1.00[EUR][1000 genomes]
rs7965522	1.00[EUR][1000 genomes]
rs7967225	1.00[EUR][1000 genomes]
rs7978079	1.00[EUR][1000 genomes]
rs7978516	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67258000-67292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67279000-67292600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:67279600-67294400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:67289800-67294000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:67290400-67293400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:67290400-67293600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:67290600-67292600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:67291000-67292600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:67291000-67293400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:67291400-67292600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:67292000-67292600	Weak transcription	Fetal Lung	lung
12	chr12:67292000-67292800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:67292000-67292800	Enhancers	Fetal Brain Female	brain
14	chr12:67292000-67293000	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:67292000-67293200	Enhancers	Fetal Brain Male	brain
16	chr12:67292200-67296400	Enhancers	Primary T cells from cord blood	blood
17	chr12:67292400-67293200	Enhancers	Colon Smooth Muscle	Colon
18	chr12:67292400-67293600	Weak transcription	Brain Germinal Matrix	brain

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