Variant report

Variant	esv3445361
Chromosome Location	chr21:47305973-47306083
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	chr21:47304723..47306559-chr21:47309917..47311783,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528152170	chr21:47306004-47306005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77720513	chr21:47306028-47306029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76975955	chr21:47306036-47306037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75340950	chr21:47306040-47306041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9984663	chr21:47306047-47306048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75532032	chr21:47306055-47306056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9984668	chr21:47306056-47306057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533344542	chr21:47306061-47306062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67389247	chr21:47306068-47306069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544033506	chr21:47306079-47306080	Weak transcription 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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47295600-47309200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:47298000-47306600	Weak transcription	NH-A	brain
3	chr21:47300600-47306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:47300800-47306200	Weak transcription	Right Ventricle	heart
5	chr21:47301000-47306400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:47301000-47306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:47301000-47306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:47301000-47306400	Weak transcription	Brain Substantia Nigra	brain
9	chr21:47301000-47306800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:47301000-47307000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:47301200-47306200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr21:47301200-47306600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:47301400-47306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:47301400-47306400	Weak transcription	NHEK	skin
15	chr21:47302800-47306600	Weak transcription	Brain Germinal Matrix	brain
16	chr21:47303000-47306400	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:47303600-47306600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:47303800-47306400	Weak transcription	HSMMtube	muscle
19	chr21:47303800-47313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr21:47304000-47307400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:47304000-47308400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:47304200-47313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr21:47304200-47313400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr21:47304400-47306600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr21:47304400-47306800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr21:47304400-47307000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr21:47304400-47310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr21:47304400-47310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr21:47304400-47311200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr21:47304400-47311600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr21:47304400-47311800	Enhancers	Primary T cells from cord blood	blood
32	chr21:47305000-47306000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr21:47305000-47306400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr21:47305000-47307400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr21:47305000-47310000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr21:47305000-47310000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:47305000-47310200	Enhancers	Fetal Thymus	thymus
38	chr21:47305000-47314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr21:47305200-47306000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr21:47305400-47306000	Weak transcription	HSMM	muscle
41	chr21:47305400-47306600	Weak transcription	Brain Anterior Caudate	brain
42	chr21:47305400-47306800	Enhancers	GM12878-XiMat	blood
43	chr21:47305400-47307200	Enhancers	Spleen	Spleen
44	chr21:47305400-47307600	Enhancers	Primary B cells from peripheral blood	blood
45	chr21:47305400-47307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:47305600-47306400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr21:47305600-47306600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:47305600-47307600	Enhancers	Brain Angular Gyrus	brain
49	chr21:47305600-47307600	Enhancers	Dnd41	blood
50	chr21:47305600-47308000	Enhancers	Thymus	Thymus

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