Variant report

Variant	esv2297588
Chromosome Location	chr7:5488819-5488822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5458158..5461530-chr7:5488359..5490865,4	MCF-7	breast:
2	chr7:5463779..5472786-chr7:5487740..5494468,14	MCF-7	breast:
3	chr7:5464891..5467567-chr7:5488157..5489750,2	K562	blood:
4	chr7:5481781..5483305-chr7:5487819..5490251,2	MCF-7	breast:
5	chr7:5486211..5489791-chr7:5490283..5493222,3	K562	blood:
6	chr7:5480168..5484767-chr7:5488147..5491979,5	MCF-7	breast:
7	chr7:5460548..5470879-chr7:5485628..5502297,36	K562	blood:

Variant related genes	Relation type
ENSG00000273084	chromatin interactions
ENSG00000272953	chromatin interactions
ENSG00000188365	chromatin interactions
ENSG00000241269	chromatin interactions
ENSG00000182095	chromatin interactions
ENSG00000234432	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 75 )

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	rs72403351	chr7:5488819-5488820	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5470200-5491800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:5470400-5497600	Weak transcription	Right Atrium	heart
3	chr7:5473200-5491200	Weak transcription	Hela-S3	cervix
4	chr7:5473200-5497200	Weak transcription	Right Ventricle	heart
5	chr7:5480000-5490200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:5483400-5490000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:5483600-5489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:5483800-5490800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:5484000-5490200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:5484000-5491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:5485600-5489400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:5486000-5490200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:5486000-5490600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:5486200-5490200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:5486200-5490200	Weak transcription	Stomach Mucosa	stomach
16	chr7:5486400-5490200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:5486400-5490600	Weak transcription	A549	lung
18	chr7:5486600-5490200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:5486600-5490200	Weak transcription	Fetal Intestine Large	intestine
20	chr7:5486600-5490200	Weak transcription	Fetal Intestine Small	intestine
21	chr7:5486600-5490400	Weak transcription	Ovary	ovary
22	chr7:5486600-5491200	Weak transcription	Spleen	Spleen
23	chr7:5486600-5497200	Weak transcription	Lung	lung
24	chr7:5486800-5490000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:5487400-5489400	Enhancers	Placenta	Placenta
26	chr7:5487600-5489400	Enhancers	Esophagus	oesophagus
27	chr7:5487600-5490200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:5487800-5495200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:5488200-5492800	Enhancers	Fetal Thymus	thymus
30	chr7:5488400-5490400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:5488400-5490400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:5488400-5490400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:5488400-5492600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:5488400-5492600	Weak transcription	NH-A	brain
35	chr7:5488600-5490000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:5488600-5490000	Weak transcription	Fetal Brain Female	brain
37	chr7:5488600-5490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:5488600-5490200	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:5488600-5490200	Weak transcription	Fetal Brain Male	brain
40	chr7:5488600-5490200	Weak transcription	HepG2	liver
41	chr7:5488600-5490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:5488600-5490600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:5488600-5492400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:5488600-5492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:5488800-5489200	Weak transcription	Fetal Heart	heart
46	chr7:5488800-5490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:5488800-5490000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:5488800-5490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:5488800-5490000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:5488800-5490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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