Variant report

Variant	nsv103652
Chromosome Location	chr16:46417575-46417704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138359083	chr16:46417580-46417581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143582216	chr16:46417586-46417587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13338133	chr16:46417587-46417588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556425936	chr16:46417588-46417589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528500906	chr16:46417591-46417592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57500843	chr16:46417595-46417596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574975114	chr16:46417605-46417606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112170854	chr16:46417608-46417609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57830881	chr16:46417616-46417617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572243664	chr16:46417619-46417620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12926712	chr16:46417621-46417622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564367429	chr16:46417623-46417624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575952061	chr16:46417633-46417634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61021629	chr16:46417634-46417635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543402631	chr16:46417637-46417638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62024209	chr16:46417642-46417643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551440514	chr16:46417649-46417650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528941959	chr16:46417650-46417651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547060675	chr16:46417654-46417655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560330115	chr16:46417657-46417658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77538461	chr16:46417665-46417666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527838123	chr16:46417671-46417672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201186476	chr16:46417672-46417673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552595079	chr16:46417674-46417675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571117791	chr16:46417676-46417677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79744915	chr16:46417682-46417683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187929835	chr16:46417700-46417701	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46417600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
2	chr16:46404800-46418800	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr16:46404800-46421600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr16:46413600-46417600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr16:46413600-46417800	ZNF genes & repeats	HMEC	breast
7	chr16:46415200-46417800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:46415200-46418600	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr16:46415200-46421600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr16:46416800-46417600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr16:46416800-46417600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr16:46416800-46417800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:46416800-46417800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:46416800-46417800	ZNF genes & repeats	Ovary	ovary
16	chr16:46416800-46417800	ZNF genes & repeats	A549	lung
17	chr16:46416800-46417800	ZNF genes & repeats	Dnd41	blood
18	chr16:46416800-46417800	ZNF genes & repeats	GM12878-XiMat	blood
19	chr16:46416800-46417800	ZNF genes & repeats	HSMMtube	muscle
20	chr16:46416800-46417800	ZNF genes & repeats	NH-A	brain
21	chr16:46416800-46417800	ZNF genes & repeats	NHEK	skin
22	chr16:46416800-46417800	ZNF genes & repeats	NHLF	lung
23	chr16:46416800-46417800	ZNF genes & repeats	Osteobl	bone
24	chr16:46416800-46418000	ZNF genes & repeats	Aorta	Aorta
25	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
26	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
28	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr16:46416800-46418600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:46416800-46418600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
31	chr16:46416800-46418600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr16:46416800-46418600	ZNF genes & repeats	Fetal Heart	heart
33	chr16:46416800-46418600	ZNF genes & repeats	Psoas Muscle	Psoas
34	chr16:46416800-46418600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr16:46416800-46418600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr16:46416800-46418600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
37	chr16:46416800-46418600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr16:46416800-46418600	ZNF genes & repeats	Stomach Mucosa	stomach
39	chr16:46416800-46418600	ZNF genes & repeats	Hela-S3	cervix
40	chr16:46416800-46418600	ZNF genes & repeats	HUVEC	blood vessel
41	chr16:46416800-46420000	ZNF genes & repeats	Left Ventricle	heart
42	chr16:46416800-46420200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr16:46416800-46420200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr16:46416800-46420400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr16:46416800-46420400	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr16:46416800-46420600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr16:46416800-46420600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr16:46416800-46420800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
49	chr16:46416800-46421400	ZNF genes & repeats	Gastric	stomach
50	chr16:46416800-46421600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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