Variant report

Variant	rs12189127
Chromosome Location	chr5:111772360-111772361
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs10036273	0.84[ASN][1000 genomes]
rs10036357	0.84[ASN][1000 genomes]
rs10039730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10041380	0.94[ASN][1000 genomes]
rs10044406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10050630	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10051512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10056040	0.94[ASN][1000 genomes]
rs10059675	0.94[ASN][1000 genomes]
rs10060534	0.94[ASN][1000 genomes]
rs10060831	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10060962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10061025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10061487	0.83[EUR][1000 genomes]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10068969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10068974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10069313	0.94[ASN][1000 genomes]
rs10069608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10069773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10071058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10071862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10076627	0.94[ASN][1000 genomes]
rs10077058	0.94[ASN][1000 genomes]
rs10077309	0.94[ASN][1000 genomes]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10079307	0.89[ASN][1000 genomes]
rs1019473	0.92[EUR][1000 genomes]
rs10463433	0.88[CEU][hapmap]
rs10477480	0.94[ASN][1000 genomes]
rs10478081	1.00[JPT][hapmap]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478084	1.00[JPT][hapmap]
rs10478086	0.94[ASN][1000 genomes]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12187787	0.94[CEU][hapmap]
rs12187819	0.88[EUR][1000 genomes]
rs12187850	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs12189152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189437	0.83[CEU][hapmap]
rs1318178	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13354202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1345685	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1524423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1524424	0.94[ASN][1000 genomes]
rs1524425	0.87[CEU][hapmap]
rs1554624	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134319	0.88[CEU][hapmap]
rs17134321	0.94[CEU][hapmap]
rs17134327	0.87[CEU][hapmap]
rs17134348	0.88[CEU][hapmap]
rs17134382	1.00[CHB][hapmap]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17134454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17134478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17134479	0.94[ASN][1000 genomes]
rs17134503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17271934	0.87[CEU][hapmap]
rs17345175	0.93[CEU][hapmap]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28497526	0.94[ASN][1000 genomes]
rs28626415	0.94[ASN][1000 genomes]
rs28631626	0.84[ASN][1000 genomes]
rs28716575	0.94[ASN][1000 genomes]
rs28806604	0.94[ASN][1000 genomes]
rs28831993	0.94[ASN][1000 genomes]
rs28836584	0.94[ASN][1000 genomes]
rs28851506	0.94[ASN][1000 genomes]
rs28887818	0.94[ASN][1000 genomes]
rs2900063	0.94[ASN][1000 genomes]
rs3749742	0.83[EUR][1000 genomes]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4292487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4441914	0.94[ASN][1000 genomes]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55814486	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56239103	0.82[EUR][1000 genomes]
rs62365255	0.86[EUR][1000 genomes]
rs6594588	0.94[CEU][hapmap]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6594596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6594597	0.94[ASN][1000 genomes]
rs6594599	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66814803	0.88[EUR][1000 genomes]
rs67638655	0.84[EUR][1000 genomes]
rs6860402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6861534	0.94[ASN][1000 genomes]
rs6863610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6865127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[CHB][hapmap]
rs6873453	0.94[ASN][1000 genomes]
rs6875349	1.00[CHB][hapmap]
rs6878092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6878117	0.88[CEU][hapmap]
rs6878158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6882162	0.91[EUR][1000 genomes]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894036	0.87[CEU][hapmap]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894395	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6895299	0.94[ASN][1000 genomes]
rs712675	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs721054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs721055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs72783628	0.87[EUR][1000 genomes]
rs73214254	0.94[ASN][1000 genomes]
rs73214256	0.94[ASN][1000 genomes]
rs73214261	0.94[ASN][1000 genomes]
rs73214264	0.94[ASN][1000 genomes]
rs73214270	0.94[ASN][1000 genomes]
rs73214272	0.94[ASN][1000 genomes]
rs73214274	0.94[ASN][1000 genomes]
rs73216591	0.94[ASN][1000 genomes]
rs73218321	0.94[ASN][1000 genomes]
rs73218338	0.89[ASN][1000 genomes]
rs73218339	0.94[ASN][1000 genomes]
rs73218340	0.94[ASN][1000 genomes]
rs73218343	0.94[ASN][1000 genomes]
rs73218347	0.94[ASN][1000 genomes]
rs73218348	0.94[ASN][1000 genomes]
rs73218349	0.94[ASN][1000 genomes]
rs73220307	0.94[ASN][1000 genomes]
rs7702830	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7705094	0.94[ASN][1000 genomes]
rs7706551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7706737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7709879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7709963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7710041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7710063	0.94[ASN][1000 genomes]
rs7710507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7711662	0.94[ASN][1000 genomes]
rs7714258	0.94[CEU][hapmap]
rs7714450	0.94[ASN][1000 genomes]
rs7716394	0.93[CEU][hapmap]
rs7725728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7725742	0.94[ASN][1000 genomes]
rs7730739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs821736	0.94[CEU][hapmap]
rs821738	0.93[CEU][hapmap]
rs821739	0.94[CEU][hapmap]
rs821746	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs821749	0.87[CEU][hapmap]
rs9326853	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9654518	0.94[ASN][1000 genomes]
rs985873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9885137	1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9885209	0.94[ASN][1000 genomes]
rs9885211	0.94[ASN][1000 genomes]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs999243	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111770600-111772400	Enhancers	Placenta	Placenta
2	chr5:111771400-111772400	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:111771400-111772400	Enhancers	Fetal Stomach	stomach
4	chr5:111771600-111772400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:111771600-111772600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:111771600-111772600	Enhancers	Lung	lung
7	chr5:111771600-111772600	Enhancers	Dnd41	blood
8	chr5:111771800-111772400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:111771800-111772400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr5:111771800-111772600	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:111771800-111772600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:111771800-111772600	Enhancers	Fetal Lung	lung
13	chr5:111772200-111774600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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