Variant report

Variant	rs58393620
Chromosome Location	chr21:47156635-47156636
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	chr21:47155045..47157882-chr21:47165789..47168073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11908989	1.00[EUR][1000 genomes]
rs11910200	1.00[EUR][1000 genomes]
rs11910741	1.00[EUR][1000 genomes]
rs11910904	1.00[EUR][1000 genomes]
rs11911016	1.00[EUR][1000 genomes]
rs12329894	1.00[EUR][1000 genomes]
rs16978611	1.00[EUR][1000 genomes]
rs2877093	1.00[EUR][1000 genomes]
rs56248019	1.00[EUR][1000 genomes]
rs56789580	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58160661	1.00[EUR][1000 genomes]
rs58476668	1.00[EUR][1000 genomes]
rs58614340	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59852288	1.00[EUR][1000 genomes]
rs60300060	1.00[EUR][1000 genomes]
rs60541263	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60918845	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61151390	1.00[EUR][1000 genomes]
rs61265907	1.00[EUR][1000 genomes]
rs61398316	1.00[EUR][1000 genomes]
rs73376613	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376621	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376631	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376653	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376677	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376685	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376697	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378536	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378554	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378560	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378572	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378580	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378582	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378589	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378591	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378594	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378597	1.00[EUR][1000 genomes]
rs73378599	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73380609	1.00[EUR][1000 genomes]
rs73380618	1.00[EUR][1000 genomes]
rs73380620	1.00[EUR][1000 genomes]
rs73380624	1.00[EUR][1000 genomes]
rs73380625	1.00[EUR][1000 genomes]
rs73380629	1.00[EUR][1000 genomes]
rs73380634	1.00[EUR][1000 genomes]
rs73380636	1.00[EUR][1000 genomes]
rs73380639	1.00[EUR][1000 genomes]
rs73380641	1.00[EUR][1000 genomes]
rs73380652	1.00[EUR][1000 genomes]
rs73380656	1.00[EUR][1000 genomes]
rs73380658	1.00[EUR][1000 genomes]
rs73380665	1.00[EUR][1000 genomes]
rs73380668	1.00[EUR][1000 genomes]
rs73380670	1.00[EUR][1000 genomes]
rs73380672	1.00[EUR][1000 genomes]
rs73380673	1.00[EUR][1000 genomes]
rs73380675	1.00[EUR][1000 genomes]
rs73380682	1.00[EUR][1000 genomes]
rs73380688	1.00[EUR][1000 genomes]
rs73382504	1.00[EUR][1000 genomes]
rs73382531	1.00[EUR][1000 genomes]
rs73382578	1.00[EUR][1000 genomes]
rs8127953	1.00[EUR][1000 genomes]
rs8129037	1.00[EUR][1000 genomes]
rs8133670	1.00[EUR][1000 genomes]
rs8133782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47135600-47165000	Weak transcription	Primary T cells from cord blood	blood
2	chr21:47144200-47167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:47144600-47157600	Weak transcription	Right Atrium	heart
4	chr21:47146600-47159600	Weak transcription	Spleen	Spleen
5	chr21:47146600-47160000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:47151800-47164800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:47152600-47157600	Strong transcription	Fetal Thymus	thymus
8	chr21:47152600-47160400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47153200-47165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:47154400-47158000	Strong transcription	Thymus	Thymus
11	chr21:47154400-47160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:47154800-47156800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:47155200-47158600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr21:47155400-47156800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr21:47156200-47156800	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:47156200-47157000	Enhancers	Brain Substantia Nigra	brain
17	chr21:47156200-47157800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:47156400-47157400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:47156600-47157200	Enhancers	HSMMtube	muscle
20	chr21:47156600-47157400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr21:47156600-47168000	Weak transcription	Brain Angular Gyrus	brain

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