Variant report

Variant	rs7041361
Chromosome Location	chr9:18073936-18073937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10738496	0.83[AMR][1000 genomes]
rs10738497	0.83[AMR][1000 genomes]
rs10738498	0.81[EUR][1000 genomes]
rs10810895	0.92[ASN][1000 genomes]
rs6475196	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7021852	0.82[EUR][1000 genomes]
rs7855468	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9987604	0.81[AMR][1000 genomes];0.81[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7041361	HAUS6	cis	cerebellum	SCAN
rs7041361	ACER2	cis	parietal	SCAN
rs7041361	TTC39B	cis	cerebellum	SCAN
rs7041361	ADAMTSL1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18062400-18074000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:18068000-18075800	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:18071400-18074000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:18072400-18077800	Weak transcription	Aorta	Aorta
5	chr9:18072800-18074000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr9:18073000-18075600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr9:18073200-18074400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:18073200-18075000	Enhancers	Ovary	ovary
9	chr9:18073400-18074400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr9:18073400-18074800	Enhancers	Colonic Mucosa	Colon
11	chr9:18073600-18074000	Enhancers	Fetal Heart	heart
12	chr9:18073800-18074200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:18073800-18074200	Enhancers	Fetal Lung	lung
14	chr9:18073800-18074200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:18073800-18074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:18073800-18075000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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