Variant report

Variant	rs4699996
Chromosome Location	chr5:61290553-61290554
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	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
2	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10058486	0.96[EUR][1000 genomes]
rs10062059	0.95[EUR][1000 genomes]
rs10214027	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13175940	0.96[EUR][1000 genomes]
rs13177362	0.96[EUR][1000 genomes]
rs13178972	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13180268	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1445884	0.96[EUR][1000 genomes]
rs1445886	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1816097	0.96[EUR][1000 genomes]
rs1816098	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1820157	0.96[EUR][1000 genomes]
rs1820159	0.92[EUR][1000 genomes]
rs1833868	0.94[EUR][1000 genomes]
rs1833871	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862587	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1972650	0.81[EUR][1000 genomes]
rs1972651	0.81[EUR][1000 genomes]
rs2032875	0.96[EUR][1000 genomes]
rs2032876	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2100035	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2166371	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2342990	0.94[EUR][1000 genomes]
rs2342991	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3843448	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4235489	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4273561	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4301180	0.94[EUR][1000 genomes]
rs4407583	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4470716	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4699997	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4699999	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4700454	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4700455	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700456	0.96[EUR][1000 genomes]
rs4700457	0.96[EUR][1000 genomes]
rs4700463	0.82[EUR][1000 genomes]
rs4700465	0.91[ASN][1000 genomes]
rs6449573	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6449577	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6869741	0.93[EUR][1000 genomes]
rs6874917	0.94[EUR][1000 genomes]
rs6896815	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7712508	0.94[EUR][1000 genomes]
rs7726251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7734412	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7736993	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs867492	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs889275	0.96[EUR][1000 genomes]
rs918616	0.96[EUR][1000 genomes]
rs9291745	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs968159	0.96[EUR][1000 genomes]
rs9885479	0.82[EUR][1000 genomes];0.91[ASN][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	nsv1020693	chr5:61098865-61357032	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv881723	chr5:61183375-61311715	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv881724	chr5:61257159-61318424	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv881725	chr5:61265820-61376320	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv508363	chr5:61287078-61362885	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61286600-61293400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:61287600-61291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:61288000-61294800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:61288200-61291200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:61288800-61291800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:61290000-61290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:61290200-61291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:61290400-61290600	Enhancers	NHDF-Ad	bronchial

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