Variant report

Variant	rs6083639
Chromosome Location	chr20:24820973-24820974
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	chr20:24820307..24822750-chr20:24822757..24824794,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1029032	0.80[EUR][1000 genomes]
rs11087480	0.90[EUR][1000 genomes]
rs11700139	1.00[ASN][1000 genomes]
rs11700161	1.00[ASN][1000 genomes]
rs11906401	0.90[EUR][1000 genomes]
rs11906511	0.91[EUR][1000 genomes]
rs1571772	1.00[ASN][1000 genomes]
rs2150644	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681373	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55905952	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55979003	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56000345	1.00[ASN][1000 genomes]
rs56053259	0.85[EUR][1000 genomes]
rs56148678	0.91[EUR][1000 genomes]
rs56249107	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56299926	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406017	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58353086	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036939	0.90[EUR][1000 genomes]
rs6036940	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036948	0.87[EUR][1000 genomes]
rs6049996	1.00[ASN][1000 genomes]
rs6050002	1.00[ASN][1000 genomes]
rs6050026	0.92[EUR][1000 genomes]
rs6050052	0.90[EUR][1000 genomes]
rs6050056	0.90[EUR][1000 genomes]
rs6050066	0.87[EUR][1000 genomes]
rs6050123	0.83[EUR][1000 genomes]
rs6076279	1.00[ASN][1000 genomes]
rs6076281	1.00[ASN][1000 genomes]
rs6076283	1.00[ASN][1000 genomes]
rs6076288	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076289	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076291	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076293	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083630	1.00[ASN][1000 genomes]
rs6083632	1.00[ASN][1000 genomes]
rs6083633	1.00[ASN][1000 genomes]
rs6083638	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6083645	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083646	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083647	0.90[EUR][1000 genomes]
rs6083649	0.90[EUR][1000 genomes]
rs6083650	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083651	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083653	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083657	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106957	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106965	1.00[ASN][1000 genomes]
rs6106967	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114893	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62215819	1.00[ASN][1000 genomes]
rs62215821	1.00[ASN][1000 genomes]
rs62215822	1.00[ASN][1000 genomes]
rs62215823	1.00[ASN][1000 genomes]
rs62215824	1.00[ASN][1000 genomes]
rs62215826	1.00[ASN][1000 genomes]
rs6515535	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7262604	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7269852	1.00[ASN][1000 genomes]
rs73101427	1.00[ASN][1000 genomes]
rs73108128	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110258	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110260	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337207	1.00[ASN][1000 genomes]
rs7509561	1.00[ASN][1000 genomes]
rs8114708	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8114760	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117102	1.00[ASN][1000 genomes]
rs8117164	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8119191	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8120506	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8123541	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914308	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061455	chr20:24733120-24861801	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544218	chr20:24733120-24861801	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24816800-24821400	Enhancers	Fetal Lung	lung
2	chr20:24817600-24821400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr20:24817800-24822600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:24817800-24822800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:24818600-24823000	Weak transcription	Fetal Thymus	thymus
6	chr20:24818800-24822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr20:24818800-24823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr20:24819000-24821000	Enhancers	GM12878-XiMat	blood
9	chr20:24819000-24821200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:24819800-24823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:24820000-24822800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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