Variant report

Variant	nsv184215
Chromosome Location	chr21:47801090-47801090
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	chr21:47798944..47801424-chr21:47809810..47811889,2	K562	blood:
2	chr21:47788835..47791511-chr21:47799288..47801354,2	K562	blood:

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	rs34108721	chr21:47801090-47801091	Weak transcription Enhancers Strong transcription	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47774200-47801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
3	chr21:47786200-47802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:47787200-47813200	Weak transcription	NH-A	brain
5	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
6	chr21:47787800-47813600	Weak transcription	Colon Smooth Muscle	Colon
7	chr21:47788000-47813000	Weak transcription	NHDF-Ad	bronchial
8	chr21:47788000-47813600	Weak transcription	HUVEC	blood vessel
9	chr21:47789000-47802200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:47789400-47807200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:47789800-47804800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:47789800-47805600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr21:47789800-47809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:47790400-47805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:47790600-47805800	Weak transcription	Colonic Mucosa	Colon
18	chr21:47792200-47801800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:47792200-47804600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr21:47792200-47812800	Weak transcription	Fetal Brain Male	brain
21	chr21:47792400-47801200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr21:47792400-47801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:47792400-47801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:47792400-47801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:47792400-47801200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr21:47792400-47801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:47792400-47801200	Weak transcription	Brain Hippocampus Middle	brain
28	chr21:47792400-47801200	Weak transcription	Brain Substantia Nigra	brain
29	chr21:47792400-47801600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:47792400-47801600	Weak transcription	Primary B cells from cord blood	blood
31	chr21:47792400-47801600	Weak transcription	Liver	Liver
32	chr21:47792400-47801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:47792400-47801800	Weak transcription	Adipose Nuclei	Adipose
34	chr21:47792400-47801800	Weak transcription	Aorta	Aorta
35	chr21:47792400-47801800	Weak transcription	Fetal Kidney	kidney
36	chr21:47792400-47801800	Weak transcription	Pancreas	Pancrea
37	chr21:47792400-47802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:47792400-47804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr21:47792400-47810200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:47792800-47801200	Weak transcription	A549	lung
41	chr21:47792800-47801400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr21:47792800-47801600	Weak transcription	Esophagus	oesophagus
43	chr21:47793000-47801400	Weak transcription	Brain Anterior Caudate	brain
44	chr21:47793000-47802600	Weak transcription	HepG2	liver
45	chr21:47793000-47809000	Weak transcription	Osteobl	bone
46	chr21:47794200-47801800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:47794400-47804200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr21:47794600-47804400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr21:47795000-47804600	Weak transcription	Fetal Heart	heart
50	chr21:47795000-47806000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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