Variant report

Variant	rs4701651
Chromosome Location	chr5:5019966-5019967
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	chr5:5013892..5018267-chr5:5019017..5021975,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10042432	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11134088	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11949438	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11955765	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11955794	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2003929	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2003930	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs249450	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249453	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs249467	0.94[ASN][1000 genomes]
rs249473	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561741	0.94[ASN][1000 genomes]
rs35972265	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3843476	0.83[ASN][1000 genomes]
rs458084	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs459126	0.83[ASN][1000 genomes]
rs4620002	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs465871	0.83[ASN][1000 genomes]
rs466185	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6555326	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6864834	0.85[CEU][hapmap]
rs6874575	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6878673	0.84[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs6896834	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7704552	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv880436	chr5:4982643-5038540	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5015800-5021000	Weak transcription	Fetal Brain Male	brain
2	chr5:5017400-5020000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:5017600-5020400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:5018000-5020000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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