Variant report

Variant	rs1867147
Chromosome Location	chr15:75363357-75363358
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	chr15:75362436..75364878-chr15:75367523..75369824,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1021382	0.83[EUR][1000 genomes]
rs10775208	0.83[EUR][1000 genomes]
rs10851877	0.83[ASN][1000 genomes]
rs11072525	0.83[EUR][1000 genomes]
rs1108059	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11638746	0.83[ASN][1000 genomes]
rs12102035	0.83[EUR][1000 genomes]
rs12148425	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12911421	1.00[YRI][hapmap]
rs12917304	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1602360	0.83[EUR][1000 genomes]
rs2029519	0.92[CHD][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs2029520	0.82[EUR][1000 genomes]
rs2289583	0.84[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2304901	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34180494	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243032	0.83[EUR][1000 genomes]
rs4334268	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4421941	0.83[ASN][1000 genomes]
rs4479194	0.83[EUR][1000 genomes]
rs4519311	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4886414	1.00[YRI][hapmap]
rs4886422	0.81[EUR][1000 genomes]
rs4886658	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4886661	0.83[EUR][1000 genomes]
rs55922358	0.91[AFR][1000 genomes]
rs56936958	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59390721	0.83[ASN][1000 genomes]
rs7166695	0.83[ASN][1000 genomes]
rs7177528	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72730583	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72730585	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72730586	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72730587	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72730601	0.83[EUR][1000 genomes]
rs8025412	0.97[CHD][hapmap];0.81[TSI][hapmap]
rs8026273	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8027604	0.92[CHD][hapmap];0.81[TSI][hapmap]
rs8028146	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1867147	CYP11A1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75342600-75364800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:75347000-75364000	Weak transcription	Brain Substantia Nigra	brain
3	chr15:75356800-75366600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:75357000-75365400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:75358400-75368600	Weak transcription	Aorta	Aorta
6	chr15:75359200-75366200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:75359600-75364400	Enhancers	GM12878-XiMat	blood
8	chr15:75360000-75370000	Weak transcription	Right Atrium	heart
9	chr15:75360600-75364800	Enhancers	Primary B cells from peripheral blood	blood
10	chr15:75360600-75366600	Enhancers	Primary B cells from cord blood	blood
11	chr15:75360800-75368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:75361400-75363600	Enhancers	Fetal Thymus	thymus
13	chr15:75361800-75365200	Weak transcription	Placenta	Placenta
14	chr15:75361800-75366800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr15:75362400-75363400	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:75362400-75365200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr15:75362600-75364600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:75362800-75364200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:75363000-75368400	Weak transcription	HepG2	liver
20	chr15:75363200-75364200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:75363200-75365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links