Variant report

Variant	esv9257
Chromosome Location	chr16:46392984-46394443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 629 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7403989	chr16:46392984-46392985	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs28775341	chr16:46392985-46392986	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs7190943	chr16:46392989-46392990	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs28821499	chr16:46392990-46392991	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs28767912	chr16:46392994-46392995	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs28799043	chr16:46392997-46392998	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs28857311	chr16:46392998-46392999	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs4500760	chr16:46393000-46393001	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs28786107	chr16:46393004-46393005	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs4273064	chr16:46393005-46393006	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs57815510	chr16:46393006-46393007	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs56412596	chr16:46393007-46393008	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs9673782	chr16:46393009-46393010	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs4486905	chr16:46393013-46393014	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs4966810	chr16:46393017-46393018	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs59774936	chr16:46393018-46393019	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs7186739	chr16:46393020-46393021	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs28769012	chr16:46393022-46393023	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs148771443	chr16:46393023-46393024	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs58002301	chr16:46393026-46393027	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs4500761	chr16:46393027-46393028	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs4258770	chr16:46393028-46393029	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs9708752	chr16:46393030-46393031	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs58831040	chr16:46393033-46393034	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs4510044	chr16:46393034-46393035	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs55755070	chr16:46393035-46393036	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs28752316	chr16:46393038-46393039	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs9673783	chr16:46393040-46393041	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs71212157	chr16:46393043-46393044	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs4502384	chr16:46393044-46393045	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs4538035	chr16:46393046-46393047	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs4967757	chr16:46393047-46393048	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs4380206	chr16:46393048-46393049	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs67228782	chr16:46393050-46393051	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs58692521	chr16:46393051-46393052	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs61377340	chr16:46393052-46393053	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs28892982	chr16:46393053-46393054	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs57896271	chr16:46393054-46393055	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs60945787	chr16:46393055-46393056	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs28767480	chr16:46393057-46393058	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs9673993	chr16:46393061-46393062	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs28845247	chr16:46393063-46393064	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs62023374	chr16:46393066-46393067	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs4624202	chr16:46393067-46393068	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs28876197	chr16:46393070-46393071	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs4246397	chr16:46393071-46393072	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs58767990	chr16:46393072-46393073	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs4967128	chr16:46393073-46393074	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs56101617	chr16:46393075-46393076	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs71259732	chr16:46393076-46393077	ZNF genes & repeats Flanking Bivalent TSS/Enh	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:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
2	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
14	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
17	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
20	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
29	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
31	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
32	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
35	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
36	chr16:46388000-46394600	ZNF genes & repeats	HSMMtube	muscle
37	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
42	chr16:46388200-46393400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:46388200-46393400	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr16:46388200-46393400	ZNF genes & repeats	K562	blood
45	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
49	chr16:46388400-46393400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:46388400-46393400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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