Variant report

Variant	rs7720189
Chromosome Location	chr5:112657611-112657612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112628328..112630254-chr5:112656025..112657722,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10037836	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10037845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10038017	0.86[ASN][1000 genomes]
rs10040533	1.00[ASN][1000 genomes]
rs10042401	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10043512	1.00[ASN][1000 genomes]
rs10044201	1.00[ASN][1000 genomes]
rs10056104	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10058535	1.00[ASN][1000 genomes]
rs10070884	1.00[ASN][1000 genomes]
rs10070990	1.00[ASN][1000 genomes]
rs10074346	1.00[ASN][1000 genomes]
rs10477489	1.00[AMR][1000 genomes]
rs10478116	1.00[AMR][1000 genomes]
rs10478121	1.00[ASN][1000 genomes]
rs11954410	1.00[ASN][1000 genomes]
rs11958613	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11958734	1.00[ASN][1000 genomes]
rs12108831	0.86[ASN][1000 genomes]
rs12110055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13357188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13358281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361059	1.00[ASN][1000 genomes]
rs13361060	1.00[ASN][1000 genomes]
rs17135568	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17135570	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1882620	0.86[ASN][1000 genomes]
rs2068922	1.00[ASN][1000 genomes]
rs28439752	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28462299	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28497391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2860051	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711712	1.00[AMR][1000 genomes]
rs28884563	0.80[AFR][1000 genomes]
rs55889115	1.00[AMR][1000 genomes]
rs57727389	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59032550	1.00[AMR][1000 genomes]
rs61560548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6868620	1.00[ASN][1000 genomes]
rs6874313	1.00[ASN][1000 genomes]
rs73781507	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781510	1.00[AMR][1000 genomes]
rs73781511	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73781512	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73781513	1.00[ASN][1000 genomes]
rs73781514	1.00[ASN][1000 genomes]
rs7700940	1.00[ASN][1000 genomes]
rs7718459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7719166	1.00[ASN][1000 genomes]
rs7736171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9285877	1.00[ASN][1000 genomes]
rs9326881	1.00[ASN][1000 genomes]
rs9326882	1.00[ASN][1000 genomes]
rs9326883	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
3	chr5:112655800-112658600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:112655800-112658800	Weak transcription	Placenta	Placenta
5	chr5:112656000-112666200	Weak transcription	HMEC	breast
6	chr5:112656200-112661200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112656600-112666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112657400-112669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:112657600-112657800	Enhancers	Left Ventricle	heart
10	chr5:112657600-112658600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:112657600-112660600	Weak transcription	Liver	Liver

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