Variant report

Variant	rs202506
Chromosome Location	chr20:1700579-1700580
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs12625431	0.81[CHB][hapmap]
rs1438106	0.81[CHB][hapmap]
rs1550265	0.90[CHB][hapmap]
rs1550266	0.81[CHB][hapmap]
rs169354	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202464	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202465	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202472	0.91[ASN][1000 genomes]
rs202474	0.91[ASN][1000 genomes]
rs202475	0.91[ASN][1000 genomes]
rs202476	0.91[ASN][1000 genomes]
rs202477	0.89[ASN][1000 genomes]
rs202493	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202494	0.99[ASN][1000 genomes]
rs202495	0.99[ASN][1000 genomes]
rs202496	0.99[ASN][1000 genomes]
rs202497	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202498	0.99[ASN][1000 genomes]
rs202499	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202500	0.99[ASN][1000 genomes]
rs202501	0.99[ASN][1000 genomes]
rs202502	0.99[ASN][1000 genomes]
rs202503	0.99[ASN][1000 genomes]
rs202504	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202505	0.99[ASN][1000 genomes]
rs202511	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202512	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202513	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202516	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202517	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202519	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202551	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs202552	0.81[CHB][hapmap]
rs2247997	0.96[ASN][1000 genomes]
rs4254564	0.81[CHB][hapmap]
rs4254565	0.80[CHB][hapmap]
rs4254566	0.81[CHB][hapmap]
rs4353709	0.81[CHB][hapmap]
rs4473456	0.81[CHB][hapmap]
rs480743	0.97[ASN][1000 genomes]
rs480769	0.97[ASN][1000 genomes]
rs482716	0.97[ASN][1000 genomes]
rs493466	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs497134	0.91[ASN][1000 genomes]
rs498139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs513119	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs513201	0.97[ASN][1000 genomes]
rs514813	0.97[ASN][1000 genomes]
rs514965	0.97[ASN][1000 genomes]
rs515883	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs515973	0.97[ASN][1000 genomes]
rs517578	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs528256	0.97[ASN][1000 genomes]
rs532097	0.97[ASN][1000 genomes]
rs544110	0.97[ASN][1000 genomes]
rs549733	0.96[ASN][1000 genomes]
rs572620	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs577238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs578127	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs578970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs585046	0.96[ASN][1000 genomes]
rs588555	0.87[ASN][1000 genomes]
rs599837	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs600303	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs601652	0.97[ASN][1000 genomes]
rs6034368	0.81[CHB][hapmap]
rs6034370	0.81[CHB][hapmap]
rs6043722	0.81[CHB][hapmap]
rs6043726	0.81[CHB][hapmap]
rs6044192	0.81[ASN][1000 genomes]
rs615007	0.97[ASN][1000 genomes]
rs629812	0.97[ASN][1000 genomes]
rs629867	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs629878	0.97[ASN][1000 genomes]
rs648051	0.91[ASN][1000 genomes]
rs659348	0.91[ASN][1000 genomes]
rs679310	0.97[ASN][1000 genomes]
rs692847	0.91[ASN][1000 genomes]
rs692891	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833894	chr20:1519433-1753366	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv531473	chr20:1532476-1864506	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1063429	chr20:1679052-1706969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1793674	chr20:1685595-1704114	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1694000-1701000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:1698600-1701200	Enhancers	NHDF-Ad	bronchial
3	chr20:1698600-1703400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:1698600-1703400	Enhancers	NHEK	skin
5	chr20:1698600-1703600	Enhancers	HMEC	breast
6	chr20:1699000-1700600	Enhancers	Osteobl	bone
7	chr20:1699000-1701200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:1699000-1701200	Enhancers	Hela-S3	cervix
9	chr20:1699200-1700600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:1699600-1700600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:1699800-1702000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:1699800-1703200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:1700000-1700800	Enhancers	NHLF	lung
14	chr20:1700200-1702600	Weak transcription	Brain Anterior Caudate	brain
15	chr20:1700200-1703400	Enhancers	Primary B cells from peripheral blood	blood

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