Variant report

Variant	rs331381
Chromosome Location	chr9:95249859-95249860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95246044..95249991-chr9:95252570..95256486,5	MCF-7	breast:
2	chr9:95245180..95247895-chr9:95248279..95250997,3	K562	blood:
3	chr9:95245372..95247917-chr9:95248004..95249887,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10761156	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs1152759	0.93[CEU][hapmap]
rs1175788	0.92[CEU][hapmap]
rs1923599	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2025389	0.93[CEU][hapmap];0.81[TSI][hapmap]
rs2031262	0.93[CEU][hapmap];0.81[TSI][hapmap]
rs2147060	0.89[ASW][hapmap];0.93[CEU][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap]
rs230222	0.93[CEU][hapmap];0.83[TSI][hapmap]
rs3174352	0.93[CEU][hapmap];0.83[TSI][hapmap]
rs331377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331379	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331380	0.93[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs3736835	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs710163	0.89[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7867300	0.89[ASW][hapmap];0.93[CEU][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409664	0.89[CEU][hapmap];0.81[TSI][hapmap]

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	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs331381	CENPP	cis	cerebellum	SCAN
rs331381	CENPP	cis	parietal	SCAN
rs331381	ZNF484	cis	cerebellum	SCAN
rs331381	ZNF484	cis	parietal	SCAN
rs331381	FANCC	cis	cerebellum	SCAN
rs331381	FBP1	cis	parietal	SCAN

Chromatin state (count:43 , 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	chr9:95235400-95251600	Weak transcription	Psoas Muscle	Psoas
3	chr9:95241400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:95241400-95255000	Weak transcription	Esophagus	oesophagus
5	chr9:95243600-95251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:95243600-95263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:95243800-95251200	Weak transcription	HSMM	muscle
8	chr9:95243800-95251200	Weak transcription	HSMMtube	muscle
9	chr9:95243800-95251400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:95243800-95251400	Weak transcription	Aorta	Aorta
11	chr9:95246200-95252000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:95246200-95261200	Weak transcription	Right Atrium	heart
13	chr9:95246400-95250800	Weak transcription	Adipose Nuclei	Adipose
14	chr9:95246400-95251400	Weak transcription	HMEC	breast
15	chr9:95246400-95267000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:95246600-95251400	Weak transcription	NHEK	skin
17	chr9:95246800-95250200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:95246800-95250200	Weak transcription	Fetal Lung	lung
19	chr9:95246800-95250600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:95246800-95250800	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:95246800-95251200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:95246800-95251200	Weak transcription	NH-A	brain
23	chr9:95246800-95251400	Weak transcription	Osteobl	bone
24	chr9:95247000-95251200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:95247000-95251400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:95247200-95250600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:95247200-95251000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:95247200-95251200	Weak transcription	NHDF-Ad	bronchial
29	chr9:95247200-95251200	Weak transcription	NHLF	lung
30	chr9:95247200-95251400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:95247200-95252000	Weak transcription	Lung	lung
32	chr9:95247400-95250000	Weak transcription	Ovary	ovary
33	chr9:95247400-95251200	Weak transcription	Fetal Heart	heart
34	chr9:95247400-95251400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:95247400-95251800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:95248200-95252600	Enhancers	Stomach Smooth Muscle	stomach
37	chr9:95248800-95253800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:95249000-95252000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr9:95249000-95252000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:95249000-95252000	Weak transcription	HUVEC	blood vessel
41	chr9:95249000-95253600	Weak transcription	K562	blood
42	chr9:95249400-95256800	Enhancers	Fetal Stomach	stomach
43	chr9:95249600-95251400	Weak transcription	Fetal Muscle Leg	muscle

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