Variant report

Variant	rs12148568
Chromosome Location	chr15:74102695-74102696
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	chr15:74099206..74103893-chr15:74105656..74108218,4	MCF-7	breast:
2	chr15:74096413..74099919-chr15:74101380..74103863,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1031407	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11072443	0.97[ASN][1000 genomes]
rs11072447	0.86[JPT][hapmap]
rs11639300	0.85[JPT][hapmap]
rs12909231	0.80[AMR][1000 genomes]
rs12910560	0.91[ASN][1000 genomes]
rs12914845	0.81[ASN][1000 genomes]
rs1377060	0.84[ASN][1000 genomes]
rs1478558	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17188111	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17188988	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2045930	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2045931	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2198295	0.84[ASN][1000 genomes]
rs2415231	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34222037	0.88[ASN][1000 genomes]
rs35814490	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4886412	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886418	0.84[ASN][1000 genomes]
rs4886419	0.84[ASN][1000 genomes]
rs4886643	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886644	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886645	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886646	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886743	0.85[JPT][hapmap]
rs62007073	0.82[AMR][1000 genomes]
rs6495081	0.84[ASN][1000 genomes]
rs71399764	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7181093	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs746653	0.91[ASN][1000 genomes]
rs746654	0.91[ASN][1000 genomes]
rs8023709	0.84[ASN][1000 genomes]
rs896600	0.81[AMR][1000 genomes]

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	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12148568	C15orf59	cis	parietal	SCAN
rs12148568	HEXA	cis	parietal	SCAN
rs12148568	PAQR5	cis	cerebellum	SCAN
rs12148568	MPI	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74096400-74103000	Weak transcription	Right Ventricle	heart
2	chr15:74097800-74110200	Weak transcription	Brain Germinal Matrix	brain
3	chr15:74100200-74105400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:74101400-74103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:74101600-74103000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr15:74101800-74103000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:74101800-74103000	Enhancers	Fetal Brain Male	brain
8	chr15:74101800-74103000	Enhancers	Left Ventricle	heart
9	chr15:74101800-74103000	Enhancers	Spleen	Spleen
10	chr15:74102000-74103000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr15:74102000-74103000	Enhancers	Fetal Muscle Trunk	muscle
12	chr15:74102200-74102800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:74102200-74102800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:74102200-74102800	Weak transcription	Right Atrium	heart
15	chr15:74102200-74103000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:74102200-74103200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:74102200-74103200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:74102200-74103200	Enhancers	Brain Cingulate Gyrus	brain
19	chr15:74102400-74102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:74102400-74103000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:74102400-74103000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:74102400-74103000	Bivalent Enhancer	NHEK	skin
23	chr15:74102400-74104800	Weak transcription	Fetal Brain Female	brain
24	chr15:74102600-74102800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr15:74102600-74102800	Flanking Active TSS	HepG2	liver
26	chr15:74102600-74105000	Weak transcription	Brain Angular Gyrus	brain
27	chr15:74102600-74105000	Weak transcription	Brain Hippocampus Middle	brain

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