Variant report

Variant	rs9979544
Chromosome Location	chr21:17039548-17039549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12329925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2242867	1.00[EUR][1000 genomes]
rs2242868	1.00[EUR][1000 genomes]
rs2242873	0.87[AMR][1000 genomes]
rs2243324	0.87[AMR][1000 genomes]
rs2823423	1.00[EUR][1000 genomes]
rs2823424	1.00[EUR][1000 genomes]
rs2823425	1.00[EUR][1000 genomes]
rs2823426	1.00[EUR][1000 genomes]
rs2823427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823429	1.00[EUR][1000 genomes]
rs2823432	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2823436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28439685	0.87[AMR][1000 genomes]
rs28479854	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7275853	1.00[EUR][1000 genomes]
rs7276871	0.86[EUR][1000 genomes]
rs7280716	0.86[EUR][1000 genomes]
rs8132095	1.00[EUR][1000 genomes]
rs8133110	1.00[EUR][1000 genomes]
rs8133234	1.00[AMR][1000 genomes]
rs9305688	1.00[EUR][1000 genomes]
rs9976285	1.00[EUR][1000 genomes]
rs9977809	0.87[AMR][1000 genomes]
rs9978054	0.87[AMR][1000 genomes]
rs9981694	1.00[EUR][1000 genomes]
rs9983104	1.00[EUR][1000 genomes]
rs9983391	1.00[EUR][1000 genomes]
rs9983611	1.00[EUR][1000 genomes]
rs9984107	0.87[AMR][1000 genomes]
rs9984621	1.00[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:19 , 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	chr21:17038800-17039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:17038800-17040200	Enhancers	NHEK	skin
4	chr21:17038800-17040400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:17038800-17040400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:17038800-17040400	Enhancers	NHDF-Ad	bronchial
7	chr21:17038800-17041000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17039000-17039600	Enhancers	NHLF	lung
9	chr21:17039000-17039800	Enhancers	A549	lung
10	chr21:17039000-17040200	Enhancers	Osteobl	bone
11	chr21:17039200-17040200	Weak transcription	Psoas Muscle	Psoas
12	chr21:17039200-17041600	Weak transcription	Placenta	Placenta
13	chr21:17039200-17049800	Weak transcription	Esophagus	oesophagus
14	chr21:17039400-17039800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:17039400-17039800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:17039400-17039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:17039400-17039800	Weak transcription	Hela-S3	cervix
18	chr21:17039400-17039800	Weak transcription	HMEC	breast
19	chr21:17039400-17039800	Weak transcription	HSMM	muscle

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