Variant report

Variant	rs7714051
Chromosome Location	chr5:127145179-127145180
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127140096..127141599-chr5:127143950..127145485,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10463500	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs10463830	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs10463831	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10463833	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10519957	0.81[AMR][1000 genomes]
rs12513840	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12514063	0.81[AMR][1000 genomes]
rs12515664	0.81[AMR][1000 genomes]
rs12515942	0.81[AMR][1000 genomes]
rs12520720	1.00[ASN][1000 genomes]
rs12522308	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523504	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1515641	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696654	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17696713	0.81[AMR][1000 genomes]
rs17696737	0.81[AMR][1000 genomes]
rs17696932	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764290	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17764334	0.81[AMR][1000 genomes]
rs17764418	0.81[AMR][1000 genomes]
rs1897524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966643	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280170	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs35890477	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4835929	0.81[AMR][1000 genomes]
rs4836331	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4836333	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57808867	0.94[ASN][1000 genomes]
rs6874932	0.81[AMR][1000 genomes]
rs6877039	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs73345063	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7706845	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7707416	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs7722425	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7729470	0.94[ASN][1000 genomes]
rs9686108	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9688160	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:127138600-127146400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:127139000-127145600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:127139200-127151800	Weak transcription	Stomach Mucosa	stomach
4	chr5:127141000-127147400	Weak transcription	NHDF-Ad	bronchial
5	chr5:127141000-127148000	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:127141200-127147400	Weak transcription	NHLF	lung
7	chr5:127141400-127145800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:127141800-127147600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:127143800-127147200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:127144200-127146800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:127144400-127145400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:127144400-127146000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:127144400-127146600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:127144600-127145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:127144800-127146400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:127145000-127146800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:127145000-127151000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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