Variant report

Variant	rs73898801
Chromosome Location	chr20:13335683-13335684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56349038	0.87[AFR][1000 genomes]
rs73899345	0.90[AFR][1000 genomes]
rs73899346	0.90[AFR][1000 genomes]
rs73901122	0.87[AFR][1000 genomes]
rs73901123	0.90[AFR][1000 genomes]
rs73901154	0.87[AFR][1000 genomes]
rs73901158	0.87[AFR][1000 genomes]
rs73901163	0.81[AFR][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	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv14953	chr20:13233949-13336340	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv17900	chr20:13279946-13336560	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13310200-13350000	Weak transcription	Pancreas	Pancrea
2	chr20:13324200-13337000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr20:13325600-13354000	Weak transcription	Dnd41	blood
4	chr20:13329800-13336400	Weak transcription	HSMMtube	muscle
5	chr20:13330000-13337000	Weak transcription	Fetal Stomach	stomach
6	chr20:13330200-13336400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr20:13334000-13338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:13334200-13336000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr20:13334200-13336200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr20:13334800-13336000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr20:13335000-13335800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:13335200-13336000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr20:13335200-13336000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr20:13335200-13337400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr20:13335200-13337800	Enhancers	HepG2	liver
16	chr20:13335200-13338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:13335400-13337400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:13335400-13337400	Enhancers	Rectal Smooth Muscle	rectum
19	chr20:13335600-13337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:13335600-13337600	Enhancers	Colon Smooth Muscle	Colon
21	chr20:13335600-13337800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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