Variant report

Variant	rs12685065
Chromosome Location	chr9:7435827-7435828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10116696	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10120316	0.96[EUR][1000 genomes]
rs10121497	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10815612	0.95[EUR][1000 genomes]
rs10815613	0.95[EUR][1000 genomes]
rs10976292	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1114258	0.95[EUR][1000 genomes]
rs11789935	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11791635	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12343995	0.96[EUR][1000 genomes]
rs12344690	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12344766	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12345262	0.96[EUR][1000 genomes]
rs12682909	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12682938	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12683302	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12684802	0.96[EUR][1000 genomes]
rs12684895	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12685373	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13284744	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13285065	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13288442	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13290242	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13290290	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13292143	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13293332	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13294039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13294606	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13297315	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13298146	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13298615	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13298703	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13299416	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13300293	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13300332	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13300962	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13301053	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13301132	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13301399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13302304	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1926400	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1926401	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1926402	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1926409	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1926412	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1926413	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2148349	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2148351	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2148352	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2148354	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2381600	0.96[EUR][1000 genomes]
rs4119627	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4327908	0.96[EUR][1000 genomes]
rs4631517	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4742345	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4742346	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4742350	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5016529	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6477202	0.96[EUR][1000 genomes]
rs7035002	0.97[EUR][1000 genomes]
rs7040670	0.96[EUR][1000 genomes]
rs7040677	0.96[EUR][1000 genomes]
rs7466731	0.95[EUR][1000 genomes]
rs767642	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs767643	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7848304	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7851639	0.81[ASN][1000 genomes]
rs7857046	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7860733	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7867077	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7868920	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7869063	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7872416	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7875445	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7875457	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv2758178	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2759662	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv34566	chr9:7291742-7781370	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv818681	chr9:7292836-7781365	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1033077	chr9:7358832-7990735	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv539977	chr9:7358832-7990735	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv8411	chr9:7420218-7450456	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv831502	chr9:7428505-7599941	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv10941	chr9:7429023-7449898	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv1029032	chr9:7431547-7764888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv982158	chr9:7434898-7436477	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12685065	IL33	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7434600-7439400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:7434600-7439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:7434800-7439400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:7434800-7439400	Weak transcription	NHEK	skin
5	chr9:7435000-7438000	Weak transcription	HMEC	breast

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