Variant report

Variant	rs1565766
Chromosome Location	chr12:76236201-76236202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76234777..76238439-chr12:76239479..76242748,4	MCF-7	breast:
2	chr12:76230979..76233331-chr12:76235384..76238133,2	MCF-7	breast:
3	chr12:76204669..76207624-chr12:76235185..76236726,2	MCF-7	breast:
4	chr12:76215518..76217462-chr12:76234728..76237383,2	K562	blood:

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];0.80[EUR][1000 genomes]
rs1275564	0.92[CEU][hapmap];0.82[TSI][hapmap]
rs1275565	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1275612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275614	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275617	0.86[EUR][1000 genomes]
rs1275619	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1290032	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1290033	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1291266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178484	0.86[EUR][1000 genomes]
rs2641449	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582306	0.86[EUR][1000 genomes]
rs7309074	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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
rs1565766	BBS10	cis	cerebellum	SCAN
rs1565766	OSBPL8	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
3	chr12:76231000-76237800	Weak transcription	HepG2	liver
4	chr12:76232200-76241400	Weak transcription	Fetal Stomach	stomach
5	chr12:76232800-76237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:76234600-76236400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:76234600-76236600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:76234600-76236800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:76234600-76237200	Enhancers	Brain Germinal Matrix	brain
10	chr12:76235400-76236400	Enhancers	Brain Substantia Nigra	brain
11	chr12:76235600-76236400	Enhancers	Brain Hippocampus Middle	brain
12	chr12:76235600-76236800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
14	chr12:76236000-76237800	Weak transcription	Fetal Brain Male	brain
15	chr12:76236000-76238400	Weak transcription	HUVEC	blood vessel
16	chr12:76236000-76239000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:76236000-76239400	Weak transcription	Fetal Brain Female	brain
18	chr12:76236000-76242000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:76236200-76236400	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:76236200-76238000	Weak transcription	Fetal Lung	lung
21	chr12:76236200-76238800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:76236200-76239000	Weak transcription	Fetal Muscle Leg	muscle

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