Variant report

Variant	rs11886090
Chromosome Location	chr2:179056938-179056939
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179054368..179057331-chr2:179057745..179062443,7	K562	blood:
2	chr2:178975761..178978600-chr2:179056476..179059620,3	K562	blood:
3	chr2:179054368..179057331-chr2:179058369..179060505,5	K562	blood:
4	chr2:178976327..178979048-chr2:179055214..179057976,2	K562	blood:
5	chr2:179056933..179060923-chr2:179315358..179318702,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000155636	Chromatin interaction
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10173229	0.85[ASN][1000 genomes]
rs10930824	0.93[ASN][1000 genomes]
rs10930826	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10930827	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883528	0.91[ASN][1000 genomes]
rs12185670	0.91[ASN][1000 genomes]
rs12471750	0.81[AMR][1000 genomes]
rs12620314	0.89[ASN][1000 genomes]
rs12623701	0.93[ASN][1000 genomes]
rs13001608	0.98[ASN][1000 genomes]
rs13004218	0.91[ASN][1000 genomes]
rs13004565	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13007977	0.89[ASN][1000 genomes]
rs13390231	0.86[ASN][1000 genomes]
rs1374257	0.84[ASN][1000 genomes]
rs1900251	0.83[ASN][1000 genomes]
rs2116544	0.91[ASN][1000 genomes]
rs334051	0.84[ASN][1000 genomes]
rs34238455	0.91[ASN][1000 genomes]
rs34477946	0.91[ASN][1000 genomes]
rs35776135	0.91[ASN][1000 genomes]
rs4638831	0.93[ASN][1000 genomes]
rs4893848	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4893999	0.87[ASN][1000 genomes]
rs4894000	0.86[ASN][1000 genomes]
rs62176039	0.84[ASN][1000 genomes]
rs7583174	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7591476	0.80[EUR][1000 genomes]
rs7596504	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179052600-179057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:179055800-179058000	Enhancers	Liver	Liver
3	chr2:179056400-179058400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:179056600-179058000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:179056600-179058000	Weak transcription	NHEK	skin
6	chr2:179056800-179058000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:179056800-179058000	Weak transcription	HMEC	breast

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