Variant report

Variant	rs2131918
Chromosome Location	chr9:95353785-95353786
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	chr9:95352537..95354140-chr9:95362429..95364239,2	K562	blood:

Variant related genes	Relation type
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10115937	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10120210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10120292	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10121218	0.82[AMR][1000 genomes]
rs10125510	1.00[YRI][hapmap]
rs10435919	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10761159	1.00[YRI][hapmap]
rs10761167	0.83[AMR][1000 genomes]
rs10761168	0.82[AMR][1000 genomes]
rs10821013	0.83[AMR][1000 genomes]
rs10992439	0.83[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs1111047	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1536423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2007245	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2296668	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2761680	1.00[YRI][hapmap]
rs4744142	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6479421	1.00[YRI][hapmap]
rs6479424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6479427	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6479429	0.85[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs7021624	0.83[AMR][1000 genomes]
rs7043114	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7864453	1.00[YRI][hapmap]
rs7864757	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7873646	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7875225	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs912260	0.92[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs912262	0.85[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes]
rs9886781	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9969804	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1052846	chr9:95291909-95366109	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2131918	CENPP	cis	cerebellum	SCAN
rs2131918	CENPP	cis	parietal	SCAN
rs2131918	ZNF484	cis	parietal	SCAN
rs2131918	ANKRD19	cis	cerebellum	SCAN
rs2131918	IPPK	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95347600-95365800	Weak transcription	Thymus	Thymus
2	chr9:95347800-95364000	Weak transcription	Left Ventricle	heart
3	chr9:95348800-95355200	Weak transcription	Aorta	Aorta
4	chr9:95351400-95354000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:95351800-95356600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:95352800-95355000	Weak transcription	Fetal Stomach	stomach
7	chr9:95352800-95356200	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:95353000-95355000	Weak transcription	HSMMtube	muscle
9	chr9:95353000-95355200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:95353000-95355200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:95353000-95355400	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:95353000-95362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:95353200-95354000	Enhancers	Fetal Lung	lung
14	chr9:95353200-95354000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr9:95353200-95355000	Weak transcription	Osteobl	bone
16	chr9:95353200-95355400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:95353200-95355400	Weak transcription	NHDF-Ad	bronchial
18	chr9:95353200-95359400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:95353200-95360600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:95353400-95353800	Enhancers	Fetal Muscle Trunk	muscle
21	chr9:95353400-95353800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:95353400-95355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:95353400-95355200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:95353400-95355400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr9:95353400-95355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:95353400-95355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:95353400-95355400	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:95353600-95355600	Weak transcription	Adipose Nuclei	Adipose

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