Variant report

Variant	rs193481
Chromosome Location	chr22:30458414-30458415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10048885	0.82[EUR][1000 genomes]
rs11090598	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12167333	0.86[EUR][1000 genomes]
rs12168499	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12168552	0.81[EUR][1000 genomes]
rs12171061	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12171250	0.91[EUR][1000 genomes]
rs12171263	0.84[EUR][1000 genomes]
rs17643918	0.82[EUR][1000 genomes]
rs17648725	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1807509	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs193473	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978083	0.84[EUR][1000 genomes]
rs2017677	0.91[EUR][1000 genomes]
rs2051764	0.91[EUR][1000 genomes]
rs2412960	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2412963	0.90[EUR][1000 genomes]
rs28257	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34862234	0.82[EUR][1000 genomes]
rs35705048	0.81[EUR][1000 genomes]
rs36580	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36590	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36591	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36594	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36596	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36598	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36600	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36601	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36604	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36605	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36606	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36607	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3788423	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3887275	0.82[EUR][1000 genomes]
rs39712	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41162	0.86[EUR][1000 genomes]
rs41164	0.90[EUR][1000 genomes]
rs41166	0.90[EUR][1000 genomes]
rs41175	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41179	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4239932	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4239933	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4337577	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4823063	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4823070	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4993442	0.80[EUR][1000 genomes]
rs5752986	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5752988	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5752993	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763630	0.87[EUR][1000 genomes]
rs5763634	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5763644	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763674	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5763675	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763680	0.91[EUR][1000 genomes]
rs5763689	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763691	0.80[EUR][1000 genomes]
rs715523	0.90[EUR][1000 genomes]
rs718772	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7286070	0.82[EUR][1000 genomes]
rs7292615	0.82[EUR][1000 genomes]
rs737904	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs737909	0.91[EUR][1000 genomes]
rs737912	0.86[EUR][1000 genomes]
rs7510705	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8135823	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8136147	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8138286	0.84[EUR][1000 genomes]
rs8139994	0.82[EUR][1000 genomes]
rs8141404	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8141680	0.81[EUR][1000 genomes]
rs8141765	0.84[EUR][1000 genomes]
rs9620926	0.82[EUR][1000 genomes]
rs9620943	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9620953	0.89[EUR][1000 genomes]
rs9625873	0.84[EUR][1000 genomes]
rs9625874	0.84[EUR][1000 genomes]
rs9625878	0.81[EUR][1000 genomes]
rs9625879	0.82[EUR][1000 genomes]
rs9625919	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625926	0.92[EUR][1000 genomes]
rs9625931	0.89[EUR][1000 genomes]
rs9625933	0.84[EUR][1000 genomes]
rs9625935	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv829165	chr22:30450894-30459421	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv819812	chr22:30453933-30470372	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
5	nsv829166	chr22:30456513-30459105	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv829167	chr22:30456513-30459421	Enhancers ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv829168	chr22:30456513-30470312	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
8	nsv829169	chr22:30457007-30459421	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv829170	chr22:30457217-30459421	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	esv3456660	chr22:30457252-30463950	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
11	esv3456661	chr22:30457252-30463950	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30456600-30460000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr22:30457800-30459600	Enhancers	Fetal Intestine Small	intestine
3	chr22:30458000-30459800	Enhancers	HepG2	liver
4	chr22:30458200-30459000	Enhancers	Stomach Mucosa	stomach
5	chr22:30458400-30458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:30458400-30458800	Enhancers	Fetal Intestine Large	intestine
7	chr22:30458400-30459400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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