Variant report

Variant	rs73339982
Chromosome Location	chr20:24422421-24422422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr20:24422310-24422574	SH-SY5Y	brain:	n/a	chr20:24422326-24422333

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24420874..24424389-chr20:24442088..24445319,3	MCF-7	breast:

Variant related genes	Relation type
GAPDHP53	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11905416	1.00[EUR][1000 genomes]
rs11907190	1.00[EUR][1000 genomes]
rs11907337	1.00[EUR][1000 genomes]
rs11907441	1.00[EUR][1000 genomes]
rs11908251	1.00[EUR][1000 genomes]
rs1475408	1.00[EUR][1000 genomes]
rs1603419	1.00[EUR][1000 genomes]
rs57839314	1.00[EUR][1000 genomes]
rs6036734	1.00[EUR][1000 genomes]
rs6036735	1.00[EUR][1000 genomes]
rs6036736	1.00[EUR][1000 genomes]
rs6036738	1.00[EUR][1000 genomes]
rs6036739	1.00[EUR][1000 genomes]
rs6036740	1.00[EUR][1000 genomes]
rs60401696	1.00[EUR][1000 genomes]
rs6049582	1.00[EUR][1000 genomes]
rs6049583	1.00[EUR][1000 genomes]
rs6049584	1.00[EUR][1000 genomes]
rs6049586	1.00[EUR][1000 genomes]
rs6049587	1.00[EUR][1000 genomes]
rs6049588	1.00[EUR][1000 genomes]
rs6049591	1.00[EUR][1000 genomes]
rs6049592	1.00[EUR][1000 genomes]
rs6049596	1.00[EUR][1000 genomes]
rs6049597	1.00[EUR][1000 genomes]
rs6049599	1.00[EUR][1000 genomes]
rs6049600	1.00[EUR][1000 genomes]
rs6049602	1.00[EUR][1000 genomes]
rs6049605	1.00[EUR][1000 genomes]
rs6114706	1.00[EUR][1000 genomes]
rs7273213	1.00[EUR][1000 genomes]
rs73341652	1.00[EUR][1000 genomes]
rs7346006	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv515713	chr20:24410195-24425987	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv458954	chr20:24410195-24431225	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv585733	chr20:24410195-24431225	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv1850507	chr20:24411854-24424386	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv585743	chr20:24412628-24422682	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv442483	chr20:24418791-24424700	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24412400-24423400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24412600-24423600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24421000-24422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:24421600-24423000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr20:24421800-24423000	Enhancers	Brain Cingulate Gyrus	brain
6	chr20:24421800-24423000	Enhancers	Brain Hippocampus Middle	brain
7	chr20:24422000-24423000	Enhancers	Brain Anterior Caudate	brain
8	chr20:24422000-24423000	Enhancers	Brain Substantia Nigra	brain
9	chr20:24422200-24422800	Enhancers	Brain Angular Gyrus	brain
10	chr20:24422200-24423000	Enhancers	Fetal Brain Female	brain
11	chr20:24422400-24422600	Enhancers	Fetal Muscle Trunk	muscle
12	chr20:24422400-24422600	Enhancers	Placenta	Placenta
13	chr20:24422400-24422800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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