Variant report

Variant	rs56350930
Chromosome Location	chr5:42641113-42641114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:
2	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10038285	0.83[EUR][1000 genomes]
rs10050889	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10063672	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10473288	0.86[EUR][1000 genomes]
rs12513710	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12518067	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12521311	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28551699	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36109172	0.87[EUR][1000 genomes]
rs3884519	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4073475	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4073476	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4242116	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4242117	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4242118	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4315928	0.88[EUR][1000 genomes]
rs4357041	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4357043	0.92[EUR][1000 genomes]
rs4394131	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4518410	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4523006	0.97[EUR][1000 genomes]
rs4547964	0.90[EUR][1000 genomes]
rs4590183	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4610468	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4612114	0.92[EUR][1000 genomes]
rs6451627	0.97[EUR][1000 genomes]
rs6864999	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6873545	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6886047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897530	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7447061	0.90[EUR][1000 genomes]
rs7701605	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7715032	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1027023	chr5:42610250-42654999	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1019648	chr5:42616487-42696943	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv537736	chr5:42616487-42696943	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv1810576	chr5:42629003-42650384	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv597907	chr5:42629998-42650384	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42623000-42644400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42624600-42648000	Weak transcription	Fetal Lung	lung
3	chr5:42632800-42644600	Weak transcription	Adipose Nuclei	Adipose
4	chr5:42632800-42648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:42635000-42644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:42640000-42648400	Weak transcription	Liver	Liver
7	chr5:42640200-42642200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:42640600-42642800	Weak transcription	Psoas Muscle	Psoas
9	chr5:42640800-42641200	Enhancers	HMEC	breast
10	chr5:42640800-42641400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:42640800-42641800	Enhancers	NHEK	skin
12	chr5:42641000-42641400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:42641000-42642400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:42641000-42642600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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