Variant report

Variant	rs410647
Chromosome Location	chr21:28419957-28419958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs233594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572713	1.00[AMR][1000 genomes]
rs570331	0.91[AFR][1000 genomes]
rs652277	0.81[AFR][1000 genomes]
rs9974650	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28417800-28420400	Weak transcription	HSMM	muscle
2	chr21:28418800-28420600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr21:28419000-28420000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr21:28419000-28420600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:28419000-28420600	Enhancers	Colon Smooth Muscle	Colon
6	chr21:28419000-28421600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:28419400-28420600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:28419400-28420600	Enhancers	Fetal Lung	lung
9	chr21:28419400-28420600	Enhancers	NHEK	skin
10	chr21:28419600-28420000	Enhancers	Adipose Nuclei	Adipose
11	chr21:28419600-28420000	Enhancers	Small Intestine	intestine
12	chr21:28419600-28420200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr21:28419600-28420200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:28419600-28420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:28419600-28420400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:28419600-28420600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:28419600-28420600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:28419600-28420600	Enhancers	Fetal Kidney	kidney
19	chr21:28419600-28420600	Enhancers	Rectal Smooth Muscle	rectum
20	chr21:28419600-28420600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr21:28419600-28420600	Enhancers	Osteobl	bone
22	chr21:28419600-28420800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:28419600-28421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:28419600-28421000	Enhancers	NHDF-Ad	bronchial
25	chr21:28419600-28421200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:28419800-28420000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr21:28419800-28420000	Flanking Active TSS	Hela-S3	cervix
28	chr21:28419800-28420200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr21:28419800-28420200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:28419800-28420200	Enhancers	Fetal Stomach	stomach
31	chr21:28419800-28420600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:28419800-28420600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:28419800-28420600	Enhancers	Stomach Smooth Muscle	stomach
34	chr21:28419800-28420600	Enhancers	NHLF	lung
35	chr21:28419800-28424800	Weak transcription	Ovary	ovary

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