Variant report

Variant	rs2823431
Chromosome Location	chr21:17040433-17040434
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12329693	1.00[EUR][1000 genomes]
rs12329910	1.00[EUR][1000 genomes]
rs12329925	0.86[EUR][1000 genomes]
rs2242674	1.00[EUR][1000 genomes]
rs2242873	1.00[EUR][1000 genomes]
rs2243324	1.00[EUR][1000 genomes]
rs2823432	0.86[EUR][1000 genomes]
rs2823436	0.86[EUR][1000 genomes]
rs2823446	1.00[EUR][1000 genomes]
rs28439685	1.00[EUR][1000 genomes]
rs28694473	1.00[EUR][1000 genomes]
rs28705330	1.00[EUR][1000 genomes]
rs8133234	1.00[EUR][1000 genomes]
rs9976449	0.86[EUR][1000 genomes]
rs9977277	1.00[EUR][1000 genomes]
rs9977809	1.00[EUR][1000 genomes]
rs9978054	1.00[EUR][1000 genomes]
rs9978242	1.00[EUR][1000 genomes]
rs9981453	1.00[EUR][1000 genomes]
rs9984107	1.00[EUR][1000 genomes]
rs9984112	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1056833	chr21:17018524-17086705	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1844987	chr21:17033833-17088977	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17037400-17044000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:17038800-17041000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:17039200-17041600	Weak transcription	Placenta	Placenta
4	chr21:17039200-17049800	Weak transcription	Esophagus	oesophagus
5	chr21:17039800-17040600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:17039800-17041600	Enhancers	Hela-S3	cervix
7	chr21:17040000-17040800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr21:17040000-17041200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:17040000-17042000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr21:17040200-17040800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:17040200-17041400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:17040200-17041400	Enhancers	Psoas Muscle	Psoas
13	chr21:17040200-17041600	Weak transcription	Osteobl	bone
14	chr21:17040200-17041800	Weak transcription	Fetal Heart	heart
15	chr21:17040400-17041600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr21:17040400-17041600	Weak transcription	NHLF	lung
17	chr21:17040400-17044200	Weak transcription	A549	lung

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