Variant report

Variant	rs813165
Chromosome Location	chr5:127144681-127144682
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	chr5:127140096..127141599-chr5:127143950..127145485,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10054323	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10066599	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10079426	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11743016	0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs13182486	0.93[CEU][hapmap]
rs13188453	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1432640	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1654087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1710276	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248694	0.89[CEU][hapmap]
rs248705	0.89[CEU][hapmap]
rs248707	0.92[CEU][hapmap];0.89[LWK][hapmap];0.85[YRI][hapmap]
rs248725	0.96[CEU][hapmap];0.84[LWK][hapmap];0.85[YRI][hapmap]
rs248727	0.88[CEU][hapmap]
rs34347180	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36138701	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36170620	0.82[AFR][1000 genomes]
rs4835930	0.81[EUR][1000 genomes]
rs7731022	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs790832	0.81[EUR][1000 genomes]
rs790833	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs790835	0.80[EUR][1000 genomes]
rs790837	0.92[CEU][hapmap];0.89[LWK][hapmap];0.91[YRI][hapmap]
rs9327450	0.84[EUR][1000 genomes];0.90[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:14 , 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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links