Variant report

Variant	esv2654299
Chromosome Location	chr16:46393946-46394259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4248833	chr16:46393946-46393947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28880594	chr16:46393950-46393951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2128471	chr16:46393953-46393954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4011860	chr16:46393954-46393955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71262683	chr16:46393956-46393957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28864387	chr16:46393959-46393960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28851168	chr16:46393961-46393962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4249066	chr16:46393964-46393965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4249330	chr16:46393965-46393966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28889916	chr16:46393970-46393971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61431898	chr16:46393974-46393975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8051724	chr16:46393979-46393980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28868706	chr16:46393980-46393981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9673413	chr16:46393983-46393984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28751091	chr16:46393985-46393986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56296248	chr16:46393987-46393988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28875590	chr16:46393989-46393990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138343676	chr16:46393991-46393992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28849782	chr16:46393994-46393995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9745645	chr16:46393997-46393998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55939246	chr16:46393999-46394000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28850290	chr16:46394000-46394001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28757278	chr16:46394001-46394002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138112566	chr16:46394003-46394004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28835701	chr16:46394005-46394006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7197501	chr16:46394008-46394009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10445174	chr16:46394009-46394010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28848539	chr16:46394010-46394011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7193151	chr16:46394011-46394012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28797582	chr16:46394013-46394014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4249282	chr16:46394014-46394015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57770476	chr16:46394015-46394016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28858504	chr16:46394017-46394018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4453523	chr16:46394018-46394019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28849500	chr16:46394019-46394020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55700994	chr16:46394024-46394025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10445175	chr16:46394026-46394027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9925005	chr16:46394027-46394028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12103160	chr16:46394029-46394030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9652705	chr16:46394030-46394031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9746616	chr16:46394035-46394036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28887877	chr16:46394039-46394040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7189834	chr16:46394040-46394041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28830838	chr16:46394045-46394046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146409387	chr16:46394052-46394053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55921577	chr16:46394060-46394061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9937211	chr16:46394062-46394063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61480087	chr16:46394063-46394064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55999325	chr16:46394064-46394065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140812895	chr16:46394065-46394066	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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
13	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
15	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
16	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
19	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
24	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
28	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
30	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
31	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
34	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
35	chr16:46388000-46394600	ZNF genes & repeats	HSMMtube	muscle
36	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
41	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
45	chr16:46388400-46395600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr16:46388400-46395600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr16:46388400-46395600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr16:46388400-46395600	ZNF genes & repeats	Thymus	Thymus
49	chr16:46388400-46397000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:46388400-46397000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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