Variant report

Variant	rs1455850
Chromosome Location	chr5:114717999-114718000
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114717884..114719836-chr5:114879578..114881305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10447263	0.95[ASN][1000 genomes]
rs10463669	0.87[ASN][1000 genomes]
rs11241323	0.80[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12516512	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs12519220	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs12657417	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs1445697	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1455849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17137700	0.99[ASN][1000 genomes]
rs1838682	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2416401	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2416402	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2416403	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2416404	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2416406	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2591258	0.94[ASN][1000 genomes]
rs2605178	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2605179	0.94[ASN][1000 genomes]
rs2900093	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34919660	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35900499	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4705524	0.94[ASN][1000 genomes]
rs4705733	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7703838	0.99[ASN][1000 genomes]
rs7704303	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7715232	0.83[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs7721559	0.99[ASN][1000 genomes]
rs7733943	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882731	chr5:114702503-114721081	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv882732	chr5:114702503-114722599	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3470654	chr5:114706116-114721234	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3470655	chr5:114706116-114721234	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv1025594	chr5:114706443-114721081	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv441963	chr5:114706443-114721085	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv34270	chr5:114709101-114721101	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv34634	chr5:114709137-114723044	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv34713	chr5:114709137-114723044	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1455850	CAMK4	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114708200-114720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:114713800-114719400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:114716000-114720600	Weak transcription	Fetal Kidney	kidney
4	chr5:114716800-114718000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr5:114717000-114718400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:114717200-114718000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:114717200-114718000	Enhancers	NHDF-Ad	bronchial
8	chr5:114717200-114719200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:114717400-114718000	Enhancers	NHLF	lung
10	chr5:114717600-114718000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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