Variant report

Variant	rs73376685
Chromosome Location	chr21:47118546-47118547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
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]
rs58393620	1.00[AFR][1000 genomes];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]
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: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	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	nsv1056995	chr21:47094147-47120504	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	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
11	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47102600-47138400	Weak transcription	Fetal Thymus	thymus
2	chr21:47117600-47121200	Enhancers	NHDF-Ad	bronchial
3	chr21:47117800-47119600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr21:47117800-47121000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:47118000-47119200	Enhancers	HSMM	muscle
6	chr21:47118000-47119400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:47118000-47120600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:47118200-47118600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:47118200-47118600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:47118200-47118600	Enhancers	Fetal Muscle Trunk	muscle
11	chr21:47118200-47118800	Enhancers	Right Atrium	heart
12	chr21:47118200-47119000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:47118200-47119000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr21:47118200-47119000	Enhancers	HSMMtube	muscle
15	chr21:47118200-47119000	Enhancers	NH-A	brain
16	chr21:47118200-47119200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:47118200-47119200	Enhancers	Fetal Muscle Leg	muscle
18	chr21:47118200-47119200	Enhancers	Rectal Smooth Muscle	rectum
19	chr21:47118200-47119200	Enhancers	NHLF	lung
20	chr21:47118200-47119200	Enhancers	Osteobl	bone
21	chr21:47118200-47119400	Enhancers	NHEK	skin
22	chr21:47118200-47119600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:47118200-47119600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:47118200-47119600	Enhancers	HMEC	breast
25	chr21:47118200-47120000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:47118400-47118800	Enhancers	Adipose Nuclei	Adipose
27	chr21:47118400-47119000	Weak transcription	Thymus	Thymus
28	chr21:47118400-47119400	Enhancers	Fetal Stomach	stomach

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