Variant report

Variant	esv1673105
Chromosome Location	chr7:65941033-65941046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 79 )

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	rs547784739	chr7:65941034-65941035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879200-65946000	Weak transcription	NHEK	skin
2	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
3	chr7:65905600-65957600	Weak transcription	Fetal Lung	lung
4	chr7:65911400-65957800	Weak transcription	Aorta	Aorta
5	chr7:65912000-65944000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:65913000-65946800	Weak transcription	Esophagus	oesophagus
7	chr7:65915800-65954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:65917000-65957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:65925000-65948400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:65925000-65957200	Weak transcription	Dnd41	blood
11	chr7:65925000-65957600	Weak transcription	Left Ventricle	heart
12	chr7:65925400-65955400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:65925400-65957200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:65927600-65950000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:65927600-65957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:65931200-65957600	Weak transcription	Right Ventricle	heart
17	chr7:65931400-65957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:65934600-65942200	Weak transcription	Stomach Mucosa	stomach
19	chr7:65934600-65955200	Weak transcription	HMEC	breast
20	chr7:65935800-65957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:65936800-65942600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:65936800-65943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:65937200-65957200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:65937200-65957200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:65937200-65957600	Weak transcription	HSMMtube	muscle
26	chr7:65937400-65943000	Weak transcription	Fetal Thymus	thymus
27	chr7:65937400-65946400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:65937400-65957200	Weak transcription	Right Atrium	heart
29	chr7:65937600-65946800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:65937600-65958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:65937800-65956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:65937800-65957600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:65937800-65957800	Weak transcription	Fetal Kidney	kidney
34	chr7:65937800-65957800	Weak transcription	Small Intestine	intestine
35	chr7:65938200-65941200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:65938200-65944000	Strong transcription	Primary T cells from cord blood	blood
37	chr7:65938200-65950800	Weak transcription	Fetal Brain Female	brain
38	chr7:65938200-65957600	Weak transcription	HSMM	muscle
39	chr7:65938400-65943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:65938600-65941400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:65938600-65942800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:65938600-65948400	Weak transcription	Osteobl	bone
43	chr7:65938600-65948600	Strong transcription	Liver	Liver
44	chr7:65938600-65948800	Strong transcription	Fetal Muscle Leg	muscle
45	chr7:65938800-65943800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:65938800-65948600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:65938800-65957600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:65939000-65941600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:65939200-65941600	Strong transcription	K562	blood
50	chr7:65939200-65945400	Strong transcription	Primary T cells fromperipheralblood	blood

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