Variant report

Variant	nsv103456
Chromosome Location	chr16:46434624-46434646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7404832	chr16:46434628-46434629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4967555	chr16:46434632-46434633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28873457	chr16:46434634-46434635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77104926	chr16:46434636-46434637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr16:46431200-46435800	ZNF genes & repeats	Hela-S3	cervix
3	chr16:46431200-46436000	ZNF genes & repeats	NH-A	brain
4	chr16:46431200-46444800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
5	chr16:46431200-46445000	ZNF genes & repeats	Dnd41	blood
6	chr16:46431200-46447000	ZNF genes & repeats	HMEC	breast
7	chr16:46431200-46456000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr16:46431200-46456200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:46431200-46456200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr16:46431200-46456400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr16:46431200-46456400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr16:46431200-46456400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr16:46431200-46456400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr16:46431200-46456400	ZNF genes & repeats	Liver	Liver
15	chr16:46431200-46456400	ZNF genes & repeats	HUVEC	blood vessel
16	chr16:46431200-46456600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:46431200-46456600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr16:46431200-46456600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr16:46433000-46434800	Weak transcription	Thymus	Thymus
20	chr16:46433000-46435400	Weak transcription	Lung	lung
21	chr16:46433800-46434800	Weak transcription	Stomach Mucosa	stomach
22	chr16:46434200-46435800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
23	chr16:46434200-46456200	ZNF genes & repeats	Fetal Brain Male	brain
24	chr16:46434200-46456800	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr16:46434400-46436200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr16:46434400-46438400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr16:46434400-46451800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr16:46434400-46452200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:46434600-46435800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:46434600-46435800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:46434600-46435800	ZNF genes & repeats	Pancreas	Pancrea
32	chr16:46434600-46436000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:46434600-46436000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:46434600-46436000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr16:46434600-46436000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:46434600-46436000	ZNF genes & repeats	Colon Smooth Muscle	Colon
37	chr16:46434600-46436000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
38	chr16:46434600-46436200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr16:46434600-46436400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr16:46434600-46436400	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr16:46434600-46439800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr16:46434600-46440600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr16:46434600-46445400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
44	chr16:46434600-46456000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr16:46434600-46456200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr16:46434600-46456200	ZNF genes & repeats	Fetal Heart	heart
47	chr16:46434600-46456400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:46434600-46456400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr16:46434600-46456400	ZNF genes & repeats	Fetal Lung	lung

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