Variant report

Variant	rs62271621
Chromosome Location	chr3:110244095-110244096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110240019..110241918-chr3:110243471..110245418,2	K562	blood:

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

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

rs_ID	r²[population]
rs10934063	0.89[EUR][1000 genomes]
rs10934064	0.89[EUR][1000 genomes]
rs11719761	0.87[ASN][1000 genomes]
rs11923659	0.82[ASN][1000 genomes]
rs12054102	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13078633	0.89[ASN][1000 genomes]
rs1462295	0.89[EUR][1000 genomes]
rs1512662	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1606350	0.95[EUR][1000 genomes]
rs16856946	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17202417	0.87[ASN][1000 genomes]
rs2055968	0.95[EUR][1000 genomes]
rs2895375	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4682179	0.87[ASN][1000 genomes]
rs57198450	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57680282	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58500543	0.89[EUR][1000 genomes]
rs59612531	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59985710	1.00[EUR][1000 genomes]
rs60302938	0.89[EUR][1000 genomes]
rs62270060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62270063	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62270076	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62270083	1.00[EUR][1000 genomes]
rs62270086	1.00[EUR][1000 genomes]
rs62270095	1.00[EUR][1000 genomes]
rs62270100	1.00[EUR][1000 genomes]
rs62270121	0.89[EUR][1000 genomes]
rs62270122	0.89[EUR][1000 genomes]
rs62270123	0.89[EUR][1000 genomes]
rs62270124	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62270127	0.89[EUR][1000 genomes]
rs62270128	0.94[EUR][1000 genomes]
rs62270130	0.89[EUR][1000 genomes]
rs62270134	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62271562	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62271576	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62271578	0.84[EUR][1000 genomes]
rs62271586	0.89[EUR][1000 genomes]
rs62271587	0.89[EUR][1000 genomes]
rs62271588	0.89[EUR][1000 genomes]
rs62271591	0.89[EUR][1000 genomes]
rs62271592	0.89[EUR][1000 genomes]
rs62271606	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62271607	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62271608	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62271609	1.00[EUR][1000 genomes]
rs62271610	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62271612	1.00[EUR][1000 genomes]
rs62271615	1.00[EUR][1000 genomes]
rs62271616	1.00[EUR][1000 genomes]
rs62271618	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62271620	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62271636	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62271639	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62271642	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62271644	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62271646	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62271647	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62271761	0.83[EUR][1000 genomes]
rs62271763	0.89[EUR][1000 genomes]
rs62271766	0.94[EUR][1000 genomes]
rs6765569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6768474	0.81[EUR][1000 genomes]
rs6772035	0.89[EUR][1000 genomes]
rs6776067	0.89[EUR][1000 genomes]
rs6781483	1.00[EUR][1000 genomes]
rs6784648	0.89[EUR][1000 genomes]
rs7617903	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7626514	0.84[ASN][1000 genomes]
rs7628733	0.89[EUR][1000 genomes]
rs7630242	0.84[ASN][1000 genomes]
rs7631316	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7632974	0.89[EUR][1000 genomes]
rs7634524	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7634536	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7650722	0.89[EUR][1000 genomes]
rs7652062	0.81[EUR][1000 genomes]
rs9653909	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9809312	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9809608	0.84[ASN][1000 genomes]
rs9825259	0.89[EUR][1000 genomes]
rs9858359	0.89[EUR][1000 genomes]
rs9873714	0.89[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	nsv999414	chr3:110103126-110340180	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv829670	chr3:110134650-110308256	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv520365	chr3:110155172-110441165	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001144	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv536687	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1001810	chr3:110158316-110522247	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1010230	chr3:110204439-110588814	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv536688	chr3:110204439-110588814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv829672	chr3:110206693-110361632	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1011034	chr3:110209344-110559021	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv536689	chr3:110209344-110559021	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110232000-110245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:110240000-110245400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:110240400-110245200	Weak transcription	HMEC	breast
4	chr3:110240600-110244800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:110240600-110245400	Weak transcription	NH-A	brain
6	chr3:110240600-110245400	Weak transcription	Osteobl	bone
7	chr3:110240800-110244400	ZNF genes & repeats	K562	blood
8	chr3:110241000-110245400	Weak transcription	NHLF	lung
9	chr3:110241400-110244800	Weak transcription	HUVEC	blood vessel
10	chr3:110243600-110244400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr3:110243800-110244200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:110243800-110244200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr3:110243800-110244800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr3:110243800-110244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:110244000-110244200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr3:110244000-110244800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr3:110244000-110245400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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