Variant report

Variant	rs73232746
Chromosome Location	chr21:47172675-47172676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11089019	0.90[ASN][1000 genomes]
rs11911348	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2838977	0.83[ASN][1000 genomes]
rs2838979	0.90[ASN][1000 genomes]
rs4819147	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725930	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280089	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232764	0.88[EUR][1000 genomes]
rs73232768	0.81[EUR][1000 genomes]
rs8133338	0.90[ASN][1000 genomes]
rs9798668	0.82[ASN][1000 genomes]
rs9977594	0.90[ASN][1000 genomes]
rs9982063	0.87[ASN][1000 genomes]
rs9982174	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47166200-47174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:47166200-47176800	Weak transcription	Dnd41	blood
3	chr21:47166200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:47167800-47176200	Weak transcription	NH-A	brain
5	chr21:47168600-47187000	Weak transcription	NHDF-Ad	bronchial
6	chr21:47168800-47183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:47169000-47176000	Weak transcription	Primary T cells from cord blood	blood
8	chr21:47169200-47174200	Weak transcription	HSMMtube	muscle
9	chr21:47169400-47175800	Weak transcription	HSMM	muscle
10	chr21:47170000-47179800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:47170200-47188800	Weak transcription	Spleen	Spleen
12	chr21:47170600-47174600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:47170800-47188200	Weak transcription	Right Atrium	heart
14	chr21:47171800-47179400	Weak transcription	Fetal Thymus	thymus
15	chr21:47171800-47180000	Weak transcription	Thymus	Thymus
16	chr21:47171800-47186600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:47172000-47175200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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