Variant report

Variant	esv2051345
Chromosome Location	chr7:64166075-64166077
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	chr7:64161938..64163789-chr7:64164541..64167796,3	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200381314	chr7:64166075-64166076	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76063300	chr7:64166076-64166077	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64128200-64167600	Weak transcription	Hela-S3	cervix
2	chr7:64128200-64168000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:64128800-64168000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:64138600-64168400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:64143800-64167000	Weak transcription	Fetal Heart	heart
6	chr7:64145400-64166800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:64146000-64167000	Weak transcription	Brain Substantia Nigra	brain
8	chr7:64146400-64166800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:64146600-64166200	Weak transcription	Brain Anterior Caudate	brain
10	chr7:64146800-64167000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:64150200-64166200	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:64150400-64166800	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:64153800-64168000	ZNF genes & repeats	Dnd41	blood
14	chr7:64153800-64170200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr7:64155000-64169600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr7:64155000-64170000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr7:64155800-64168000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr7:64158200-64167600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:64159000-64171400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:64159600-64170600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:64159800-64168000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr7:64161600-64167400	ZNF genes & repeats	Thymus	Thymus
23	chr7:64162200-64166400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:64162200-64167600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:64163000-64167600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:64163000-64167800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr7:64163200-64169000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:64163400-64169600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr7:64163600-64167600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:64163600-64167800	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr7:64163600-64167800	ZNF genes & repeats	A549	lung
32	chr7:64163600-64169600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr7:64163600-64170600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr7:64163600-64170600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr7:64163800-64170800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:64164400-64167800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr7:64164400-64168000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:64164400-64170400	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr7:64164600-64167400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr7:64164600-64167600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr7:64164600-64168000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr7:64164600-64168800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:64164800-64167400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr7:64164800-64167600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:64164800-64167600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:64164800-64167600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr7:64164800-64167600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr7:64164800-64168000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr7:64164800-64168000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:64164800-64168200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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