Variant report

Variant	rs3936216
Chromosome Location	chr9:16816655-16816656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10810638	0.90[MEX][hapmap];0.80[EUR][1000 genomes]
rs10962623	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10962626	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10962628	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10962629	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10962630	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11788101	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11789463	0.81[CEU][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes]
rs34790477	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36067353	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3936215	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7024447	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7863196	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3936216	MPDZ	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16796200-16816800	Weak transcription	HSMMtube	muscle
2	chr9:16796400-16824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:16810600-16817200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:16810600-16824400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:16810600-16824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:16810800-16817200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:16810800-16824200	Weak transcription	HSMM	muscle
8	chr9:16812200-16824400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:16812600-16823800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:16812600-16826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:16812800-16824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:16814200-16817200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:16814200-16817600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:16814200-16817600	Weak transcription	Osteobl	bone
15	chr9:16814200-16824000	Weak transcription	NHLF	lung
16	chr9:16814400-16824200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:16814600-16817800	Enhancers	Rectal Smooth Muscle	rectum
18	chr9:16814800-16817200	Enhancers	Fetal Stomach	stomach
19	chr9:16814800-16817800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:16814800-16818000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:16815200-16817800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:16815400-16816800	Enhancers	Fetal Kidney	kidney
23	chr9:16815400-16817000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:16815400-16817600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:16815400-16817800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:16815400-16822200	Weak transcription	Fetal Lung	lung
27	chr9:16815600-16817800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:16815800-16817400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:16816000-16817800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:16816000-16817800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr9:16816200-16817400	Enhancers	Ovary	ovary
32	chr9:16816200-16818000	Enhancers	Colon Smooth Muscle	Colon
33	chr9:16816600-16816800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr9:16816600-16817000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:16816600-16817800	Enhancers	H1 Cell Line	embryonic stem cell

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