Variant report

Variant	rs2189518
Chromosome Location	chr7:86682943-86682944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86681835..86683515-chr7:86687516..86689143,2	MCF-7	breast:
2	chr7:86682599..86685287-chr7:86688597..86690242,2	MCF-7	breast:
3	chr7:86681094..86683952-chr7:86784208..86786605,2	K562	blood:

Variant related genes	Relation type
ENSG00000164659	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11768303	0.93[AFR][1000 genomes]
rs11973613	1.00[AMR][1000 genomes]
rs11975067	1.00[AMR][1000 genomes]
rs11981874	1.00[AMR][1000 genomes]
rs11981886	1.00[AMR][1000 genomes]
rs11983715	1.00[AMR][1000 genomes]
rs11984243	1.00[AMR][1000 genomes]
rs12704329	0.93[AFR][1000 genomes]
rs13225695	0.93[AFR][1000 genomes]
rs2007519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2189520	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2214536	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34335609	0.93[AFR][1000 genomes]
rs34527027	0.93[AFR][1000 genomes]
rs34673425	0.87[AFR][1000 genomes]
rs34690369	0.93[AFR][1000 genomes]
rs34768475	0.93[AFR][1000 genomes]
rs34832612	0.90[AFR][1000 genomes]
rs35021944	0.93[AFR][1000 genomes]
rs35311174	0.93[AFR][1000 genomes]
rs35427247	0.93[AFR][1000 genomes]
rs35463465	0.93[AFR][1000 genomes]
rs35623664	0.87[AFR][1000 genomes]
rs35763089	0.93[AFR][1000 genomes]
rs35765384	0.93[AFR][1000 genomes]
rs35767496	0.90[AFR][1000 genomes]
rs35838629	0.87[AFR][1000 genomes]
rs55745425	0.93[AFR][1000 genomes]
rs56003141	0.93[AFR][1000 genomes]
rs67068271	0.93[AFR][1000 genomes]
rs6947236	1.00[AMR][1000 genomes]
rs73200986	0.93[AFR][1000 genomes]
rs73200989	0.93[AFR][1000 genomes]
rs73200991	0.93[AFR][1000 genomes]
rs73200993	0.93[AFR][1000 genomes]
rs73200996	0.93[AFR][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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr7:86669200-86685800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:86675800-86683800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:86676800-86686200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:86677600-86688000	Weak transcription	Left Ventricle	heart
5	chr7:86678000-86687400	Weak transcription	Lung	lung
6	chr7:86679000-86684400	Weak transcription	HUVEC	blood vessel
7	chr7:86679800-86685000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:86682400-86686800	Enhancers	Brain Angular Gyrus	brain
9	chr7:86682600-86683200	Enhancers	Brain Hippocampus Middle	brain
10	chr7:86682600-86684600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:86682600-86684600	Enhancers	Fetal Brain Male	brain
12	chr7:86682800-86683200	Enhancers	Brain Substantia Nigra	brain
13	chr7:86682800-86684400	Enhancers	Brain Anterior Caudate	brain
14	chr7:86682800-86684600	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:86682800-86687400	Enhancers	Brain Inferior Temporal Lobe	brain

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