Variant report

Variant	rs12347857
Chromosome Location	chr9:95262107-95262108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95256777..95259029-chr9:95261790..95264471,2	K562	blood:
2	chr9:95260294..95262206-chr9:95404638..95407034,2	MCF-7	breast:
3	chr9:95261329..95263829-chr9:95264776..95266744,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10115976	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10117603	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119535	0.90[ASN][1000 genomes]
rs10156530	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10283718	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10820962	0.90[ASN][1000 genomes]
rs10820963	0.90[ASN][1000 genomes]
rs10820970	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10820973	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10820978	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10820982	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10820995	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10992308	1.00[CEU][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992312	1.00[CEU][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992314	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10992334	0.90[ASN][1000 genomes]
rs10992348	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992350	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992359	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12349712	0.90[ASN][1000 genomes]
rs12350198	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12350842	1.00[CEU][hapmap]
rs12352447	0.90[ASN][1000 genomes]
rs12378023	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1447114	0.90[ASN][1000 genomes]
rs1951849	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744140	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56168105	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58391046	0.90[ASN][1000 genomes]
rs6479425	0.86[EUR][1000 genomes]
rs7027998	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7036078	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7036459	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7037068	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7860297	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7862677	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7872739	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7873882	0.95[CEU][hapmap];0.90[ASN][1000 genomes]
rs7875681	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9695754	0.95[CEU][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12347857	CENPP	cis	Nerve Tibial	GTEx
rs12347857	CENPP	cis	lung	GTEx
rs12347857	CENPP	cis	Esophagus Muscularis	GTEx
rs12347857	CENPP	cis	Artery Tibial	GTEx
rs12347857	CENPP	cis	Artery Aorta	GTEx
rs12347857	CENPP	cis	Adipose Subcutaneous	GTEx
rs12347857	CENPP	cis	Thyroid	GTEx
rs12347857	CENPP	cis	Muscle Skeletal	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95231800-95268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:95243600-95263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:95246400-95267000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:95252200-95263800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:95252200-95266400	Weak transcription	NHLF	lung
6	chr9:95252400-95266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:95252600-95269400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:95255000-95274600	Weak transcription	Liver	Liver
9	chr9:95255200-95263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:95255200-95264000	Weak transcription	Esophagus	oesophagus
11	chr9:95255400-95263200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:95255400-95263800	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:95255400-95264000	Weak transcription	Aorta	Aorta
14	chr9:95255400-95266600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:95255400-95269400	Weak transcription	Right Ventricle	heart
16	chr9:95256200-95264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:95256600-95263200	Weak transcription	Ovary	ovary
18	chr9:95256600-95266000	Weak transcription	Fetal Lung	lung
19	chr9:95256800-95267000	Weak transcription	Fetal Stomach	stomach
20	chr9:95257400-95263400	Weak transcription	Adipose Nuclei	Adipose
21	chr9:95257600-95264000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:95257600-95266800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:95258200-95268000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:95258600-95268200	Weak transcription	Fetal Heart	heart
25	chr9:95259000-95263600	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:95259200-95263200	Weak transcription	NHEK	skin
27	chr9:95259400-95264000	Weak transcription	HSMMtube	muscle
28	chr9:95261200-95262200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:95261200-95262200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:95261200-95262200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:95261200-95262200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:95261200-95262200	Enhancers	NHDF-Ad	bronchial
33	chr9:95261400-95262200	Enhancers	Brain Anterior Caudate	brain
34	chr9:95261400-95262400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:95261400-95262400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:95261400-95268200	Weak transcription	Brain Substantia Nigra	brain
37	chr9:95261600-95264800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr9:95261600-95265600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:95261600-95266000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:95261600-95266200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:95261600-95266200	Weak transcription	Right Atrium	heart
42	chr9:95261800-95265800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:95262000-95262200	Enhancers	Brain Hippocampus Middle	brain
44	chr9:95262000-95262400	Enhancers	Osteobl	bone
45	chr9:95262000-95263400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:95262000-95263400	Weak transcription	Rectal Smooth Muscle	rectum

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