Variant report

Variant	rs73380636
Chromosome Location	chr21:47256460-47256461
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	CEBPB	chr21:47256378-47256542	IMR90	lung:	n/a	n/a
2	USF1	chr21:47256293-47256514	SK-N-SH_RA	brain:	n/a	n/a
3	USF2	chr21:47256269-47256590	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr21:47256278-47256534	SK-N-SH_RA	brain:	n/a	n/a
5	USF1	chr21:47256235-47256627	ECC-1	luminal epithelium:	n/a	n/a
6	USF1	chr21:47256219-47256522	K562	blood:	n/a	n/a
7	USF1	chr21:47256203-47256633	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000205424	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11908989	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11909787	1.00[AMR][1000 genomes]
rs11909949	1.00[AMR][1000 genomes]
rs11910200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910469	1.00[AMR][1000 genomes]
rs11910564	1.00[AMR][1000 genomes]
rs11910565	1.00[AMR][1000 genomes]
rs11910741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910904	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11911016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911051	1.00[AMR][1000 genomes]
rs11911103	1.00[AMR][1000 genomes]
rs11911110	1.00[AMR][1000 genomes]
rs11911278	1.00[AMR][1000 genomes]
rs11911477	1.00[AMR][1000 genomes]
rs11911528	1.00[AMR][1000 genomes]
rs11911547	1.00[AMR][1000 genomes]
rs11911599	1.00[AMR][1000 genomes]
rs11911859	1.00[AMR][1000 genomes]
rs16978611	1.00[EUR][1000 genomes]
rs28684590	1.00[AMR][1000 genomes]
rs2877093	1.00[EUR][1000 genomes]
rs34087732	1.00[AMR][1000 genomes]
rs56789580	1.00[EUR][1000 genomes]
rs57812778	1.00[AMR][1000 genomes]
rs58126571	0.85[AFR][1000 genomes]
rs58160661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58393620	1.00[EUR][1000 genomes]
rs58476668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58587005	1.00[AMR][1000 genomes]
rs58614340	1.00[EUR][1000 genomes]
rs59852288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60300060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60541263	1.00[EUR][1000 genomes]
rs60918845	1.00[EUR][1000 genomes]
rs61151390	1.00[EUR][1000 genomes]
rs61152109	1.00[AMR][1000 genomes]
rs61265907	1.00[EUR][1000 genomes]
rs61398316	1.00[EUR][1000 genomes]
rs61736689	1.00[AMR][1000 genomes]
rs7275801	1.00[AMR][1000 genomes]
rs7275803	1.00[AMR][1000 genomes]
rs7276615	0.85[AFR][1000 genomes]
rs7278814	1.00[AMR][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]
rs73378597	1.00[EUR][1000 genomes]
rs73378599	1.00[EUR][1000 genomes]
rs73380609	1.00[EUR][1000 genomes]
rs73380618	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380624	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380629	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380634	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380641	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380668	1.00[EUR][1000 genomes]
rs73380670	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380675	1.00[EUR][1000 genomes]
rs73380682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380693	1.00[AMR][1000 genomes]
rs73382504	1.00[EUR][1000 genomes]
rs73382531	1.00[EUR][1000 genomes]
rs73382578	1.00[EUR][1000 genomes]
rs8127791	0.83[AFR][1000 genomes]
rs8127953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8128525	1.00[AMR][1000 genomes]
rs8129037	1.00[EUR][1000 genomes]
rs8129516	1.00[AMR][1000 genomes]
rs8133670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8133782	1.00[EUR][1000 genomes]
rs9984190	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47240600-47256600	Weak transcription	Dnd41	blood
3	chr21:47241600-47257400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:47241800-47257600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:47247000-47257600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:47247200-47257000	Weak transcription	Spleen	Spleen
7	chr21:47248000-47257200	Weak transcription	Primary T cells from cord blood	blood
8	chr21:47251000-47258800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr21:47253200-47258000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:47253200-47258600	Weak transcription	NHEK	skin
11	chr21:47253400-47257800	Strong transcription	Thymus	Thymus
12	chr21:47253400-47259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:47253600-47256800	Weak transcription	Fetal Thymus	thymus
14	chr21:47253800-47258200	Weak transcription	HSMM	muscle
15	chr21:47254000-47258200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:47254200-47259200	Weak transcription	HMEC	breast
17	chr21:47254600-47257600	Weak transcription	Brain Anterior Caudate	brain
18	chr21:47255200-47256600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:47255200-47256800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:47255200-47257200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:47255200-47259800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:47255400-47256600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:47255400-47257200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:47255600-47256600	Enhancers	Brain Cingulate Gyrus	brain
25	chr21:47255600-47256600	Enhancers	Fetal Stomach	stomach
26	chr21:47255600-47257200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr21:47255600-47257800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr21:47255600-47257800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:47255800-47257000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:47256000-47256600	Enhancers	Fetal Brain Male	brain
31	chr21:47256000-47257400	Enhancers	Fetal Lung	lung
32	chr21:47256200-47256600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:47256200-47256600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:47256200-47256600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:47256200-47256800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr21:47256200-47256800	Enhancers	Brain Substantia Nigra	brain
37	chr21:47256200-47257200	Enhancers	Fetal Kidney	kidney
38	chr21:47256200-47258200	Enhancers	NHDF-Ad	bronchial
39	chr21:47256400-47256600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:47256400-47256800	Weak transcription	Brain Hippocampus Middle	brain
41	chr21:47256400-47259200	Weak transcription	HSMMtube	muscle

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