Variant report

Variant	esv2364593
Chromosome Location	chr7:65372883-65372884
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	chr7:65366932..65368571-chr7:65372098..65374403,2	K562	blood:

Extended variants
information (count: 0)
Associated
traits (count: 77 )

No data

Variant related diseases (count:77)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339600-65381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:65339600-65394400	Weak transcription	HMEC	breast
3	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:65351800-65389200	Weak transcription	Lung	lung
5	chr7:65357000-65392400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:65357400-65381000	Weak transcription	Primary B cells from cord blood	blood
7	chr7:65357600-65375600	Weak transcription	HSMM	muscle
8	chr7:65358000-65375400	Weak transcription	Fetal Heart	heart
9	chr7:65358200-65392400	Weak transcription	Primary T cells from cord blood	blood
10	chr7:65358400-65374200	Weak transcription	Ovary	ovary
11	chr7:65362600-65383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:65364400-65392400	Weak transcription	Left Ventricle	heart
13	chr7:65364800-65377800	Weak transcription	Osteobl	bone
14	chr7:65364800-65387400	Weak transcription	K562	blood
15	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:65367400-65377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:65367400-65378200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:65367600-65373800	Weak transcription	NHDF-Ad	bronchial
20	chr7:65367600-65376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:65367600-65388200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:65367800-65394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:65368800-65403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:65369600-65383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:65369600-65403600	Weak transcription	Fetal Stomach	stomach
28	chr7:65369600-65405800	Weak transcription	NHEK	skin
29	chr7:65369800-65380400	Weak transcription	GM12878-XiMat	blood
30	chr7:65370000-65382200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:65370000-65387000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:65370200-65375000	Weak transcription	Fetal Lung	lung
33	chr7:65370200-65382200	Weak transcription	Dnd41	blood
34	chr7:65371200-65373000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:65371400-65373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:65371600-65373000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:65371600-65373000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:65371600-65373000	Enhancers	Thymus	Thymus
39	chr7:65371600-65373000	Enhancers	A549	lung
40	chr7:65371600-65373000	Enhancers	HepG2	liver
41	chr7:65371600-65373200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:65371600-65373200	Enhancers	Fetal Intestine Small	intestine
43	chr7:65371600-65373200	Enhancers	Stomach Mucosa	stomach
44	chr7:65371600-65392800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:65371800-65373000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:65371800-65373000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:65371800-65373200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:65371800-65375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:65371800-65392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:65372000-65392000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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