Variant report

Variant	rs73378597
Chromosome Location	chr21:47231203-47231204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47224097..47226924-chr21:47229345..47232171,3	K562	blood:
2	chr21:46962604..46965511-chr21:47229673..47232533,2	MCF-7	breast:
3	chr21:47230580..47232125-chr21:47237148..47240141,2	K562	blood:

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:64)

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]
rs16978611	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2877093	1.00[EUR][1000 genomes]
rs56789580	1.00[EUR][1000 genomes]
rs58160661	1.00[EUR][1000 genomes]
rs58393620	1.00[EUR][1000 genomes]
rs58476668	1.00[EUR][1000 genomes]
rs58614340	1.00[EUR][1000 genomes]
rs59852288	1.00[EUR][1000 genomes]
rs60300060	1.00[EUR][1000 genomes]
rs60541263	1.00[EUR][1000 genomes]
rs60918845	1.00[EUR][1000 genomes]
rs61151390	1.00[EUR][1000 genomes]
rs61265907	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61398316	1.00[EUR][1000 genomes]
rs73376613	1.00[EUR][1000 genomes]
rs73376621	1.00[EUR][1000 genomes]
rs73376631	1.00[EUR][1000 genomes]
rs73376653	1.00[EUR][1000 genomes]
rs73376677	1.00[EUR][1000 genomes]
rs73376685	1.00[EUR][1000 genomes]
rs73376697	1.00[EUR][1000 genomes]
rs73378536	1.00[EUR][1000 genomes]
rs73378554	1.00[EUR][1000 genomes]
rs73378560	1.00[EUR][1000 genomes]
rs73378572	1.00[EUR][1000 genomes]
rs73378580	1.00[EUR][1000 genomes]
rs73378582	1.00[EUR][1000 genomes]
rs73378589	1.00[EUR][1000 genomes]
rs73378591	1.00[EUR][1000 genomes]
rs73378594	1.00[EUR][1000 genomes]
rs73378599	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	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8133670	1.00[EUR][1000 genomes]
rs8133782	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea
3	chr21:47221000-47236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47221200-47239800	Weak transcription	Spleen	Spleen
5	chr21:47224000-47239000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:47226800-47236800	Weak transcription	Fetal Thymus	thymus
7	chr21:47231000-47231800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr21:47231200-47231400	Genic enhancers	Thymus	Thymus

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