Variant report

Variant	rs11700550
Chromosome Location	chr21:28420360-28420361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11700565	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701044	0.83[EUR][1000 genomes]
rs11701774	0.86[AMR][1000 genomes]
rs11908753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910713	0.81[EUR][1000 genomes]
rs12481871	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830652	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830671	0.81[EUR][1000 genomes]
rs2830680	0.81[EUR][1000 genomes]
rs28846681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276360	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994584	0.83[EUR][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:29 , 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	chr21:28419000-28420600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:28419000-28420600	Enhancers	Colon Smooth Muscle	Colon
5	chr21:28419000-28421600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:28419400-28420600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:28419400-28420600	Enhancers	Fetal Lung	lung
8	chr21:28419400-28420600	Enhancers	NHEK	skin
9	chr21:28419600-28420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:28419600-28420400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:28419600-28420600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:28419600-28420600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:28419600-28420600	Enhancers	Fetal Kidney	kidney
14	chr21:28419600-28420600	Enhancers	Rectal Smooth Muscle	rectum
15	chr21:28419600-28420600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr21:28419600-28420600	Enhancers	Osteobl	bone
17	chr21:28419600-28420800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:28419600-28421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:28419600-28421000	Enhancers	NHDF-Ad	bronchial
20	chr21:28419600-28421200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:28419800-28420600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:28419800-28420600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:28419800-28420600	Enhancers	Stomach Smooth Muscle	stomach
24	chr21:28419800-28420600	Enhancers	NHLF	lung
25	chr21:28419800-28424800	Weak transcription	Ovary	ovary
26	chr21:28420000-28420400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr21:28420000-28421800	Enhancers	Hela-S3	cervix
28	chr21:28420200-28420400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:28420200-28420600	Enhancers	Skeletal Muscle Female	skeletal muscle

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