Variant report

Variant	rs4815129
Chromosome Location	chr20:22635354-22635355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22633726..22635582-chr20:22639135..22641090,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1007202	0.81[EUR][1000 genomes]
rs1007458	0.81[EUR][1000 genomes]
rs1146365	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1203920	0.82[EUR][1000 genomes]
rs1203927	0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs1203928	0.81[EUR][1000 genomes]
rs1203931	0.81[EUR][1000 genomes]
rs1203932	0.81[EUR][1000 genomes]
rs1203934	0.81[EUR][1000 genomes]
rs1203935	0.92[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1203940	0.81[EUR][1000 genomes]
rs1203941	0.81[EUR][1000 genomes]
rs1203942	0.81[EUR][1000 genomes]
rs1203943	0.81[EUR][1000 genomes]
rs1203948	0.83[AMR][1000 genomes]
rs1203949	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1203950	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1884742	0.87[EUR][1000 genomes]
rs2145058	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2145059	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2145060	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2145061	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2180553	0.89[EUR][1000 genomes]
rs2224316	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424442	0.87[EUR][1000 genomes]
rs2424443	0.87[EUR][1000 genomes]
rs2424444	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424445	0.86[AMR][1000 genomes]
rs2424446	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2424450	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2424454	0.91[ASN][1000 genomes]
rs2424456	0.91[ASN][1000 genomes]
rs2424457	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2424458	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2424459	0.89[ASN][1000 genomes]
rs4815130	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815131	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4815132	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4815134	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4815135	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs55803110	0.89[ASN][1000 genomes]
rs6036168	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6036169	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6048245	0.89[ASN][1000 genomes]
rs6075931	0.86[EUR][1000 genomes]
rs6082762	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6082765	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6082774	0.89[ASN][1000 genomes]
rs6082778	0.89[ASN][1000 genomes]
rs6082779	0.89[ASN][1000 genomes]
rs6113758	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6132536	0.89[ASN][1000 genomes]
rs6132537	0.89[ASN][1000 genomes]
rs6137712	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137721	0.89[ASN][1000 genomes]
rs7273357	0.89[ASN][1000 genomes]
rs73304707	0.87[ASN][1000 genomes]
rs747911	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs747912	0.89[EUR][1000 genomes]
rs754855	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs910956	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs910957	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs910960	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs975525	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs995734	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064571	chr20:22601105-22645251	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3442827	chr20:22632852-22637550	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3379368	chr20:22633452-22636850	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3346402	chr20:22633652-22636850	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22633200-22635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22634000-22643400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22634200-22639400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr20:22634400-22639000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr20:22634400-22639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr20:22634400-22643800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr20:22634800-22635400	Bivalent/Poised TSS	Fetal Lung	lung
8	chr20:22634800-22635600	Bivalent Enhancer	Fetal Kidney	kidney
9	chr20:22635200-22635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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