Variant report

Variant	esv1558286
Chromosome Location	chr21:47426218-47426251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28575554	chr21:47426219-47426220	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35312714	chr21:47426235-47426236	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185043124	chr21:47426237-47426238	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113508203	chr21:47426248-47426249	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47409800-47426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
3	chr21:47412400-47426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:47419400-47426600	Weak transcription	NH-A	brain
5	chr21:47420400-47429400	Weak transcription	Fetal Lung	lung
6	chr21:47420600-47427800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:47422800-47438800	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:47423000-47426400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:47423200-47426400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr21:47423800-47426400	Weak transcription	Lung	lung
11	chr21:47423800-47427000	Weak transcription	Gastric	stomach
12	chr21:47423800-47428800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:47424000-47427000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:47424000-47432800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:47424200-47426400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:47424200-47426400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:47424200-47426800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:47424600-47427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:47424600-47427400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:47424600-47427400	Weak transcription	Adipose Nuclei	Adipose
21	chr21:47424600-47434400	Weak transcription	Aorta	Aorta
22	chr21:47424800-47426400	Weak transcription	Brain Germinal Matrix	brain
23	chr21:47424800-47426600	Weak transcription	Left Ventricle	heart
24	chr21:47424800-47427800	Weak transcription	Esophagus	oesophagus
25	chr21:47424800-47430200	Weak transcription	Fetal Brain Female	brain
26	chr21:47424800-47431400	Weak transcription	Right Ventricle	heart
27	chr21:47425200-47426400	Weak transcription	Spleen	Spleen
28	chr21:47425200-47426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:47425200-47427000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr21:47425200-47427000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:47425200-47427000	Weak transcription	Osteobl	bone
32	chr21:47425200-47427200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr21:47425200-47427600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr21:47425200-47427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr21:47425200-47427600	Weak transcription	NHLF	lung
36	chr21:47425200-47428800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:47425200-47428800	Weak transcription	Ovary	ovary
38	chr21:47425200-47431600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:47425200-47431600	Weak transcription	NHDF-Ad	bronchial
40	chr21:47425200-47432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr21:47425400-47426800	Weak transcription	Fetal Muscle Leg	muscle
42	chr21:47425400-47427000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr21:47425400-47427000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr21:47425400-47427600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:47425400-47432200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:47425600-47427800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:47425600-47427800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr21:47425800-47426400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:47425800-47426400	Weak transcription	Fetal Stomach	stomach
50	chr21:47425800-47427200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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