Variant report

Variant	rs73380688
Chromosome Location	chr21:47275534-47275535
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	chr21:47273743..47277318-chr21:47278622..47280436,3	K562	blood:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs11908989	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]
rs11910565	1.00[AMR][1000 genomes]
rs11910741	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910904	1.00[EUR][1000 genomes]
rs11911016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911051	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]
rs58160661	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58393620	1.00[EUR][1000 genomes]
rs58476668	0.80[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60300060	0.80[AFR][1000 genomes];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]
rs61736689	1.00[AMR][1000 genomes]
rs7275801	1.00[AMR][1000 genomes]
rs7275803	1.00[AMR][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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380652	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380658	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380665	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380668	1.00[EUR][1000 genomes]
rs73380670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380675	1.00[EUR][1000 genomes]
rs73380682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380693	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73382504	1.00[EUR][1000 genomes]
rs73382531	1.00[EUR][1000 genomes]
rs73382578	1.00[EUR][1000 genomes]
rs8127953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8128525	0.85[AFR][1000 genomes];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:18 , 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
15	nsv914080	chr21:47265786-47311686	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS 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	2 gene(s)	inside rSNPs	n/a
16	nsv914081	chr21:47265786-47320805	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
17	nsv914082	chr21:47265786-47338007	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
18	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47265800-47282000	Weak transcription	Primary T cells from cord blood	blood
2	chr21:47266800-47300600	Weak transcription	Right Atrium	heart
3	chr21:47272400-47282000	Strong transcription	Thymus	Thymus
4	chr21:47273200-47289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:47273600-47275800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:47273800-47299200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:47274400-47275600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:47274400-47275800	Enhancers	NH-A	brain
9	chr21:47274400-47277200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:47274400-47277400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:47274800-47275600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:47274800-47275600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:47274800-47277600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr21:47275000-47275600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:47275000-47275800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr21:47275000-47276800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:47275000-47277400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr21:47275200-47275600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:47275200-47275800	Enhancers	Adipose Nuclei	Adipose
20	chr21:47275200-47276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:47275200-47277400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr21:47275200-47284200	Weak transcription	HSMMtube	muscle
23	chr21:47275400-47275600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:47275400-47275800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47275400-47276200	Strong transcription	Fetal Thymus	thymus
26	chr21:47275400-47276400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:47275400-47279000	Weak transcription	Spleen	Spleen
28	chr21:47275400-47281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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