Variant report

Variant	rs1275619
Chromosome Location	chr12:76241188-76241189
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	chr12:76234777..76238439-chr12:76239479..76242748,4	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1275556	0.88[CEU][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap]
rs1275564	0.92[CEU][hapmap];0.82[TSI][hapmap]
rs1275565	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1275612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275614	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275617	0.84[EUR][1000 genomes]
rs1290032	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290033	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1291266	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565766	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178484	0.84[EUR][1000 genomes]
rs2641449	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582306	0.84[EUR][1000 genomes]
rs7309074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1275619	OSBPL8	cis	cerebellum	SCAN
rs1275619	BBS10	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76232200-76241400	Weak transcription	Fetal Stomach	stomach
3	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
4	chr12:76236000-76242000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:76236400-76242000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:76236800-76241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:76236800-76241400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:76238000-76242000	Weak transcription	Fetal Brain Male	brain
9	chr12:76238400-76241600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:76239400-76241600	Weak transcription	Ovary	ovary
11	chr12:76239400-76242000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:76239400-76242000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:76239600-76244600	Weak transcription	HepG2	liver
14	chr12:76239800-76241400	Weak transcription	HUVEC	blood vessel
15	chr12:76239800-76242400	Weak transcription	Fetal Brain Female	brain
16	chr12:76240000-76241400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:76240400-76241600	Weak transcription	Brain Germinal Matrix	brain
18	chr12:76240400-76242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
20	chr12:76240600-76241600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:76240800-76244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:76241000-76241200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:76241000-76242800	Enhancers	Fetal Lung	lung

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