Variant report

Variant	esv3404734
Chromosome Location	chr16:46426732-46427170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374985293	chr16:46426732-46426733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376258658	chr16:46426735-46426736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367944977	chr16:46426736-46426737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373364770	chr16:46426737-46426738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371491594	chr16:46426742-46426743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375809675	chr16:46426744-46426745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112640650	chr16:46426754-46426755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370038949	chr16:46426759-46426760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372799779	chr16:46426762-46426763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377174021	chr16:46426766-46426767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369627233	chr16:46426767-46426768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111682331	chr16:46426771-46426772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113409805	chr16:46426777-46426778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376628968	chr16:46426786-46426787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545099566	chr16:46426788-46426789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370716115	chr16:46426789-46426790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563438715	chr16:46426792-46426793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141621703	chr16:46426793-46426794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374059706	chr16:46426794-46426795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377588099	chr16:46426798-46426799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112760679	chr16:46426799-46426800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142795078	chr16:46426800-46426801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369398305	chr16:46426806-46426807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150155422	chr16:46426807-46426808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372695092	chr16:46426812-46426813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376982415	chr16:46426815-46426816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62021648	chr16:46426824-46426825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147522963	chr16:46426828-46426829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370066995	chr16:46426832-46426833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374171825	chr16:46426836-46426837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368419612	chr16:46426837-46426838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62021649	chr16:46426838-46426839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542396043	chr16:46426840-46426841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375558582	chr16:46426841-46426842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375933376	chr16:46426843-46426844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146474370	chr16:46426848-46426849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376368443	chr16:46426849-46426850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370817517	chr16:46426850-46426851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62021650	chr16:46426851-46426852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150632889	chr16:46426855-46426856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111548681	chr16:46426856-46426857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62021651	chr16:46426859-46426860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374225116	chr16:46426862-46426863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74217572	chr16:46426863-46426864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372169585	chr16:46426864-46426865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191842696	chr16:46426865-46426866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62021652	chr16:46426872-46426873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368137893	chr16:46426874-46426875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372073836	chr16:46426880-46426881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79643573	chr16:46426884-46426885	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr16:46422200-46430400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:46422800-46430400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr16:46422800-46430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr16:46423000-46430000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr16:46423000-46430400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:46423000-46430400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr16:46423000-46430400	ZNF genes & repeats	Liver	Liver
13	chr16:46423000-46430400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr16:46423000-46430400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
15	chr16:46423000-46433200	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr16:46423200-46428200	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr16:46423200-46430400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr16:46423200-46430400	ZNF genes & repeats	Fetal Brain Male	brain
19	chr16:46423200-46430400	ZNF genes & repeats	Fetal Heart	heart
20	chr16:46423200-46430400	ZNF genes & repeats	Fetal Lung	lung
21	chr16:46423200-46430400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr16:46423200-46430400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr16:46424400-46430400	ZNF genes & repeats	HMEC	breast
24	chr16:46424600-46428200	ZNF genes & repeats	Left Ventricle	heart
25	chr16:46424600-46429200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr16:46424600-46430200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:46424600-46430200	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr16:46424600-46430400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr16:46424800-46430200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr16:46425000-46428000	ZNF genes & repeats	Gastric	stomach
31	chr16:46425000-46430200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr16:46425200-46428000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr16:46425200-46428000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
34	chr16:46425200-46428000	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr16:46425200-46428000	ZNF genes & repeats	HSMMtube	muscle
36	chr16:46425200-46428000	ZNF genes & repeats	Osteobl	bone
37	chr16:46425200-46428200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:46425200-46428200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr16:46425200-46428200	ZNF genes & repeats	NH-A	brain
40	chr16:46425200-46428400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr16:46425200-46428600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr16:46425200-46428600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:46425200-46430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:46425200-46430200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr16:46425200-46430200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
46	chr16:46425200-46430200	ZNF genes & repeats	A549	lung
47	chr16:46425200-46430200	ZNF genes & repeats	Dnd41	blood
48	chr16:46425200-46430400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:46425200-46430400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:46425200-46430400	ZNF genes & repeats	Brain Anterior Caudate	brain

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