Variant report

Variant	esv2353550
Chromosome Location	chr21:47054958-47054960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:
2	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 36 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140027042	chr21:47054958-47054959	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47053000-47058000	Weak transcription	Dnd41	blood
6	chr21:47053200-47055400	Weak transcription	Esophagus	oesophagus
7	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
8	chr21:47054200-47055000	Flanking Active TSS	Fetal Thymus	thymus
9	chr21:47054400-47055000	Active TSS	HSMMtube	muscle
10	chr21:47054400-47055200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr21:47054400-47055200	Enhancers	HSMM	muscle
12	chr21:47054400-47055200	Enhancers	Osteobl	bone
13	chr21:47054400-47055400	Enhancers	Primary B cells from peripheral blood	blood
14	chr21:47054400-47056200	Enhancers	Gastric	stomach
15	chr21:47054600-47055000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:47054800-47055000	Active TSS	Fetal Kidney	kidney
17	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47054800-47055200	Flanking Active TSS	GM12878-XiMat	blood
20	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
21	chr21:47054800-47055400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr21:47054800-47056000	Transcr. at gene 5' and 3'	Thymus	Thymus
23	chr21:47054800-47056600	Enhancers	Pancreas	Pancrea
24	chr21:47054800-47057200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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