Variant report

Variant	rs1675791
Chromosome Location	chr12:44290267-44290268
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	chr12:44153831..44156325-chr12:44288014..44290828,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10748373	1.00[ASN][1000 genomes]
rs10880617	1.00[JPT][hapmap]
rs11182294	0.85[EUR][1000 genomes]
rs12298970	1.00[ASN][1000 genomes]
rs12311962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12314126	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13377809	1.00[JPT][hapmap]
rs1406786	0.81[YRI][hapmap]
rs1675760	0.94[AFR][1000 genomes]
rs1675765	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1675766	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675771	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1675774	0.94[ASN][1000 genomes]
rs1675776	0.94[ASN][1000 genomes]
rs1675778	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1675782	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1675783	1.00[ASN][1000 genomes]
rs1675784	1.00[ASN][1000 genomes]
rs1675786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675788	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17094007	1.00[JPT][hapmap]
rs1731422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1731424	0.83[YRI][hapmap]
rs1731425	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1731438	1.00[ASN][1000 genomes]
rs1731439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1731440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1731442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1731449	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731453	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs2447114	1.00[ASN][1000 genomes]
rs2447115	1.00[ASN][1000 genomes]
rs2447116	0.94[ASN][1000 genomes]
rs2699992	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs2951436	1.00[ASN][1000 genomes]
rs4768049	1.00[ASN][1000 genomes]
rs73098836	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315408	0.82[EUR][1000 genomes]
rs7953229	0.88[ASN][1000 genomes]
rs7957146	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7958314	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7960478	1.00[JPT][hapmap]
rs7965635	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7966024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9739594	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9919711	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44279200-44292600	Weak transcription	Left Ventricle	heart
3	chr12:44279200-44297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44288000-44296000	Weak transcription	Psoas Muscle	Psoas
5	chr12:44289000-44293800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:44289200-44290800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44290000-44290600	Enhancers	HSMMtube	muscle
8	chr12:44290200-44291000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:44290200-44291000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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