Variant report

Variant	rs66580280
Chromosome Location	chr9:16499247-16499248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10117527	0.84[ASN][1000 genomes]
rs10123674	0.84[ASN][1000 genomes]
rs10810571	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10810572	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10810573	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10962454	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10962456	0.97[ASN][1000 genomes]
rs10962457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10962458	0.88[ASN][1000 genomes]
rs10962459	0.88[ASN][1000 genomes]
rs10962463	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962468	0.85[ASN][1000 genomes]
rs12156570	0.81[ASN][1000 genomes]
rs1927631	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35380246	0.95[ASN][1000 genomes]
rs36040975	0.95[ASN][1000 genomes]
rs7020843	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021958	0.95[ASN][1000 genomes]
rs7035687	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7035706	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7041549	0.96[ASN][1000 genomes]
rs7043485	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7848343	0.84[ASN][1000 genomes]
rs7848584	0.84[ASN][1000 genomes]
rs7848696	0.84[ASN][1000 genomes]
rs7863830	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS 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	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv892646	chr9:16476144-16514375	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv892647	chr9:16476144-16521534	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv466265	chr9:16484731-16516941	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
8	nsv613670	chr9:16484731-16516941	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
9	esv3434285	chr9:16497252-16499400	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16459600-16499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:16459600-16500000	Weak transcription	NHLF	lung
3	chr9:16471000-16504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:16483200-16513600	Weak transcription	Psoas Muscle	Psoas
5	chr9:16485000-16499800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:16485000-16500000	Weak transcription	HSMM	muscle
7	chr9:16485000-16504800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:16485400-16499800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:16485400-16505000	Weak transcription	HSMMtube	muscle
10	chr9:16485800-16505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:16486200-16500000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:16486600-16500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:16487400-16500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:16488200-16504600	Weak transcription	Fetal Stomach	stomach
15	chr9:16488200-16505200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:16488800-16505000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:16489000-16499800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:16489000-16504800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:16494000-16505000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:16494600-16504600	Weak transcription	Fetal Lung	lung
21	chr9:16495200-16509800	Weak transcription	Aorta	Aorta
22	chr9:16495800-16501800	Weak transcription	Ovary	ovary
23	chr9:16496600-16500000	Weak transcription	HUVEC	blood vessel
24	chr9:16496600-16500000	Weak transcription	Osteobl	bone
25	chr9:16497200-16503000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:16497200-16504800	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:16497400-16499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:16497400-16500000	Weak transcription	Placenta Amnion	Placenta Amnion

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