Variant report

Variant	rs1329919
Chromosome Location	chr9:18075847-18075848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10511648	0.96[ASN][1000 genomes]
rs10511649	0.90[ASN][1000 genomes]
rs10810885	0.93[ASN][1000 genomes]
rs10810886	0.93[ASN][1000 genomes]
rs10810893	0.80[EUR][1000 genomes]
rs10963403	0.93[ASN][1000 genomes]
rs10963414	0.90[ASN][1000 genomes]
rs10963415	0.90[ASN][1000 genomes]
rs10963416	0.90[ASN][1000 genomes]
rs10963418	0.93[ASN][1000 genomes]
rs10963431	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963443	0.82[EUR][1000 genomes]
rs12156463	0.93[ASN][1000 genomes]
rs12337268	0.86[ASN][1000 genomes]
rs12341372	0.93[ASN][1000 genomes]
rs12346224	0.90[ASN][1000 genomes]
rs12347884	0.96[ASN][1000 genomes]
rs12350936	1.00[ASN][1000 genomes]
rs12376842	0.90[ASN][1000 genomes]
rs1329927	0.93[ASN][1000 genomes]
rs34384948	0.96[ASN][1000 genomes]
rs67660830	1.00[ASN][1000 genomes]
rs7350308	0.80[ASN][1000 genomes]
rs9987690	0.93[ASN][1000 genomes]
rs9987691	0.93[ASN][1000 genomes]
rs9987764	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv613706	chr9:17718918-18090934	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1021605	chr9:18002205-18271109	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892678	chr9:18033944-18082567	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv466280	chr9:18033944-18166112	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv471288	chr9:18033944-18166112	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv613723	chr9:18033944-18166112	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv892679	chr9:18044802-18226609	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1329919	ADAMTSL1	cis	cerebellum	SCAN
rs1329919	HAUS6	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18072400-18077800	Weak transcription	Aorta	Aorta
2	chr9:18074000-18076200	Weak transcription	Fetal Heart	heart
3	chr9:18074400-18076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:18074400-18080600	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:18074800-18076400	Weak transcription	Colonic Mucosa	Colon
6	chr9:18074800-18076600	Enhancers	Liver	Liver
7	chr9:18075000-18085000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:18075400-18076800	Enhancers	Ovary	ovary
9	chr9:18075600-18076000	Enhancers	Adipose Nuclei	Adipose
10	chr9:18075600-18076000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:18075600-18076000	Enhancers	Fetal Lung	lung
12	chr9:18075600-18076000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr9:18075600-18076000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr9:18075600-18077600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr9:18075800-18076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:18075800-18076600	Enhancers	Colon Smooth Muscle	Colon
17	chr9:18075800-18076600	Enhancers	Duodenum Mucosa	Duodenum

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