Variant report

Variant	rs182048922
Chromosome Location	chr21:28168539-28168540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv3390983	chr21:28168060-28168660	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28167200-28168600	Enhancers	Ovary	ovary
3	chr21:28167600-28168600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:28167600-28168600	Enhancers	NH-A	brain
5	chr21:28167600-28168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:28167600-28169200	Enhancers	Brain Germinal Matrix	brain
7	chr21:28167600-28169400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr21:28167600-28169600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:28167600-28170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:28167800-28168600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:28167800-28168600	Enhancers	Fetal Muscle Leg	muscle
12	chr21:28167800-28168800	Enhancers	HSMMtube	muscle
13	chr21:28167800-28169000	Enhancers	Fetal Stomach	stomach
14	chr21:28167800-28169400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:28168000-28168600	Enhancers	Colon Smooth Muscle	Colon
16	chr21:28168000-28168800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr21:28168000-28168800	Enhancers	HSMM	muscle
18	chr21:28168000-28169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:28168000-28169200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:28168000-28169400	Enhancers	Fetal Heart	heart
21	chr21:28168200-28168600	Active TSS	Brain Anterior Caudate	brain
22	chr21:28168200-28168600	Active TSS	Brain Hippocampus Middle	brain
23	chr21:28168200-28168600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr21:28168200-28168800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:28168200-28168800	Active TSS	Brain Angular Gyrus	brain
26	chr21:28168200-28168800	Enhancers	Rectal Smooth Muscle	rectum
27	chr21:28168200-28169000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:28168200-28169000	Enhancers	Fetal Lung	lung
29	chr21:28168200-28169000	Enhancers	NHLF	lung
30	chr21:28168400-28168800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:28168400-28168800	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr21:28168400-28169000	Enhancers	Osteobl	bone
33	chr21:28168400-28169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:28168400-28171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:28168400-28172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:28168400-28172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
38	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart

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