Variant report

Variant	rs202508
Chromosome Location	chr20:1701658-1701659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs202456	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202457	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202459	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202461	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202462	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202463	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202466	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202467	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs202494	0.84[EUR][1000 genomes]
rs202495	0.84[EUR][1000 genomes]
rs202496	0.84[EUR][1000 genomes]
rs202498	0.84[EUR][1000 genomes]
rs202500	0.84[EUR][1000 genomes]
rs202501	0.84[EUR][1000 genomes]
rs202502	0.84[EUR][1000 genomes]
rs202503	0.84[EUR][1000 genomes]
rs202505	0.84[EUR][1000 genomes]
rs202507	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202510	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202514	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202518	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247997	0.83[EUR][1000 genomes]
rs480743	0.84[EUR][1000 genomes]
rs480769	0.84[EUR][1000 genomes]
rs482716	0.84[EUR][1000 genomes]
rs514813	0.84[EUR][1000 genomes]
rs514965	0.84[EUR][1000 genomes]
rs515883	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs515973	0.84[EUR][1000 genomes]
rs517578	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs528256	0.84[EUR][1000 genomes]
rs532097	0.84[EUR][1000 genomes]
rs544110	0.84[EUR][1000 genomes]
rs549733	0.84[EUR][1000 genomes]
rs572620	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs585046	0.84[EUR][1000 genomes]
rs599837	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs601652	0.84[EUR][1000 genomes]
rs615007	0.84[EUR][1000 genomes]
rs629812	0.84[EUR][1000 genomes]
rs629878	0.84[EUR][1000 genomes]
rs679310	0.83[EUR][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	chr20:1698600-1703400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:1698600-1703400	Enhancers	NHEK	skin
3	chr20:1698600-1703600	Enhancers	HMEC	breast
4	chr20:1699800-1702000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:1699800-1703200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:1700200-1702600	Weak transcription	Brain Anterior Caudate	brain
7	chr20:1700200-1703400	Enhancers	Primary B cells from peripheral blood	blood
8	chr20:1700600-1703000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:1700800-1702200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr20:1701000-1702600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:1701400-1703600	Enhancers	Primary B cells from cord blood	blood
12	chr20:1701400-1714600	Weak transcription	Brain Hippocampus Middle	brain
13	chr20:1701600-1702400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr20:1701600-1702400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr20:1701600-1702400	Enhancers	GM12878-XiMat	blood

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