Variant report

Variant	esv3449036
Chromosome Location	chr16:46420778-46429154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1787 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1787 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4404090	chr16:46420782-46420783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369035015	chr16:46420787-46420788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79856445	chr16:46420797-46420798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57731919	chr16:46420801-46420802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9745787	chr16:46420802-46420803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28816780	chr16:46420803-46420804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74492102	chr16:46420806-46420807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13332494	chr16:46420813-46420814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56287829	chr16:46420821-46420822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9746459	chr16:46420835-46420836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28879171	chr16:46420838-46420839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9935066	chr16:46420843-46420844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4603740	chr16:46420848-46420849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4603741	chr16:46420855-46420856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9935069	chr16:46420857-46420858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9745791	chr16:46420858-46420859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56393423	chr16:46420862-46420863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28856583	chr16:46420879-46420880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55792608	chr16:46420882-46420883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28833780	chr16:46420883-46420884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28883615	chr16:46420884-46420885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60713464	chr16:46420897-46420898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9939999	chr16:46420900-46420901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4588009	chr16:46420903-46420904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28818227	chr16:46420904-46420905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9935140	chr16:46420908-46420909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12597583	chr16:46420909-46420910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4250386	chr16:46420911-46420912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74397194	chr16:46420913-46420914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9940051	chr16:46420920-46420921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56304877	chr16:46420926-46420927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28820351	chr16:46420933-46420934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9928809	chr16:46420935-46420936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28812888	chr16:46420940-46420941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60304010	chr16:46420947-46420948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28791178	chr16:46420956-46420957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57150712	chr16:46420962-46420963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56357435	chr16:46420964-46420965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13333549	chr16:46420968-46420969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56751348	chr16:46420971-46420972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55704715	chr16:46420976-46420977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28875195	chr16:46420978-46420979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28822393	chr16:46420979-46420980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144223169	chr16:46420984-46420985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57425471	chr16:46420988-46420989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55833427	chr16:46420992-46420993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4967355	chr16:46420999-46421000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55869522	chr16:46421003-46421004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs56134927	chr16:46421010-46421011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4480829	chr16:46421012-46421013	ZNF genes & repeats	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:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46421600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr16:46415200-46421600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:46416800-46420800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr16:46416800-46421400	ZNF genes & repeats	Gastric	stomach
7	chr16:46416800-46421600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr16:46416800-46421600	ZNF genes & repeats	Liver	Liver
9	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr16:46416800-46421600	ZNF genes & repeats	Fetal Brain Male	brain
12	chr16:46416800-46421600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr16:46416800-46421800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr16:46419400-46420800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr16:46419400-46421400	ZNF genes & repeats	Aorta	Aorta
18	chr16:46419400-46421400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
19	chr16:46419400-46421600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:46419400-46421600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr16:46419400-46421600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr16:46419400-46421600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:46419400-46421600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:46419400-46421600	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr16:46419400-46421600	ZNF genes & repeats	Brain Substantia Nigra	brain
26	chr16:46419400-46421600	ZNF genes & repeats	Fetal Brain Female	brain
27	chr16:46419400-46421600	ZNF genes & repeats	Fetal Heart	heart
28	chr16:46419400-46421600	ZNF genes & repeats	Fetal Lung	lung
29	chr16:46419400-46421600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
30	chr16:46419400-46421600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
31	chr16:46419400-46421600	ZNF genes & repeats	HepG2	liver
32	chr16:46419400-46421600	ZNF genes & repeats	HUVEC	blood vessel
33	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr16:46420200-46421000	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:46420200-46421000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:46421000-46421600	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr16:46421000-46421600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr16:46421200-46421400	ZNF genes & repeats	A549	lung
39	chr16:46421200-46421600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr16:46421200-46421600	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr16:46421400-46423200	Weak transcription	Aorta	Aorta
42	chr16:46421400-46423200	Weak transcription	Gastric	stomach
43	chr16:46421400-46423200	Weak transcription	A549	lung
44	chr16:46421600-46423200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr16:46421600-46423200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:46421600-46423200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:46421600-46423200	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:46421600-46423200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr16:46421600-46423200	Weak transcription	Brain Substantia Nigra	brain
50	chr16:46421600-46423200	Weak transcription	Colon Smooth Muscle	Colon

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