Variant report

Variant	rs73378572
Chromosome Location	chr21:47189130-47189131
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47177355..47179923-chr21:47187921..47189738,2	K562	blood:
2	chr21:46961425..46963255-chr21:47188321..47189838,2	MCF-7	breast:
3	chr21:47016056..47017268-chr21:47188399..47189168,3	MCF-7	breast:
4	chr21:46975665..46976596-chr21:47188221..47189183,6	MCF-7	breast:
5	chr21:47174221..47175833-chr21:47188320..47189947,2	MCF-7	breast:
6	chr21:47188474..47189148-chr21:47343010..47343629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173638	Chromatin interaction

Extended variants
information (count: 75 )
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	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58160661	1.00[EUR][1000 genomes]
rs58393620	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58476668	1.00[EUR][1000 genomes]
rs58614340	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59852288	1.00[EUR][1000 genomes]
rs60300060	1.00[EUR][1000 genomes]
rs60541263	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60918845	1.00[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	1.00[EUR][1000 genomes]
rs73376621	1.00[EUR][1000 genomes]
rs73376631	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376653	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376677	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376685	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376697	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378536	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378554	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378560	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378580	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378582	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378589	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378591	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378594	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378597	1.00[EUR][1000 genomes]
rs73378599	1.00[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:9 , 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	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47166200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr21:47186200-47189600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr21:47186200-47189800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr21:47186400-47189400	Enhancers	Fetal Stomach	stomach
5	chr21:47186600-47189200	Enhancers	Primary T cells from cord blood	blood
6	chr21:47186800-47190000	Weak transcription	Esophagus	oesophagus
7	chr21:47186800-47191000	Enhancers	Thymus	Thymus
8	chr21:47187200-47190800	Enhancers	Fetal Thymus	thymus
9	chr21:47187400-47189200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:47187600-47189200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr21:47188000-47189600	Enhancers	Fetal Brain Female	brain
12	chr21:47188000-47190000	Enhancers	Fetal Brain Male	brain
13	chr21:47188400-47189200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:47188600-47189400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr21:47188600-47196200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:47188800-47208000	Weak transcription	NHDF-Ad	bronchial
17	chr21:47189000-47189200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:47189000-47189600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:47189000-47189800	Enhancers	Fetal Intestine Large	intestine
20	chr21:47189000-47190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:47189000-47190600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:47189000-47191200	Weak transcription	Spleen	Spleen

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