Variant report

Variant	rs3752052
Chromosome Location	chr5:114726461-114726462
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	chr5:114725594..114727819-chr5:114879941..114881957,2	MCF-7	breast:
2	chr5:114713804..114715548-chr5:114724717..114726881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10036686	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10052230	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052335	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10054091	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072589	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078844	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10085045	0.81[AMR][1000 genomes]
rs10478229	0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10478230	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10478231	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1109015	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1109016	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12332367	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2004680	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2605185	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269536	0.90[CHB][hapmap]
rs269537	0.90[CHB][hapmap]
rs3752047	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752048	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3752051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713623	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713947	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986244	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986246	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114723800-114726800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114725400-114728200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:114725400-114728200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:114725400-114728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:114725800-114727000	Weak transcription	Pancreas	Pancrea
6	chr5:114725800-114727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:114725800-114728200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:114725800-114728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:114725800-114729000	Weak transcription	Left Ventricle	heart
10	chr5:114725800-114729000	Weak transcription	Right Atrium	heart
11	chr5:114725800-114729000	Weak transcription	Right Ventricle	heart
12	chr5:114725800-114729000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:114725800-114730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:114726000-114727800	Weak transcription	NHDF-Ad	bronchial
15	chr5:114726000-114728400	Weak transcription	NHLF	lung
16	chr5:114726000-114728600	Weak transcription	Fetal Lung	lung
17	chr5:114726200-114729600	Weak transcription	Gastric	stomach

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