Variant report

Variant	esv2426213
Chromosome Location	chr16:46396968-46397336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113614755	chr16:46396971-46396972	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs72497648	chr16:46396976-46396977	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs7500668	chr16:46396997-46396998	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs62059444	chr16:46396999-46397000	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs72483751	chr16:46397004-46397005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4966902	chr16:46397006-46397007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9746118	chr16:46397013-46397014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62059445	chr16:46397014-46397015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4966904	chr16:46397016-46397017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62059446	chr16:46397019-46397020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs587603701	chr16:46397020-46397021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs4966905	chr16:46397021-46397022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs9745398	chr16:46397025-46397026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72497649	chr16:46397027-46397028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs28791904	chr16:46397030-46397031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12148962	chr16:46397033-46397034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11247402	chr16:46397034-46397035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs28805699	chr16:46397036-46397037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62059447	chr16:46397037-46397038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62059448	chr16:46397042-46397043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62059449	chr16:46397044-46397045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376203692	chr16:46397047-46397048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371983713	chr16:46397048-46397049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs369163462	chr16:46397051-46397052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs76528178	chr16:46397052-46397053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4966906	chr16:46397055-46397056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12149327	chr16:46397063-46397064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs28832606	chr16:46397065-46397066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182180809	chr16:46397067-46397068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs9930997	chr16:46397085-46397086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs28827638	chr16:46397086-46397087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs28863493	chr16:46397087-46397088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372627942	chr16:46397092-46397093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs9746643	chr16:46397094-46397095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375674277	chr16:46397096-46397097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12148964	chr16:46397097-46397098	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369989230	chr16:46397107-46397108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs28847622	chr16:46397108-46397109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369599923	chr16:46397109-46397110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs373756603	chr16:46397126-46397127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs13337783	chr16:46397127-46397128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs28881912	chr16:46397128-46397129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13330221	chr16:46397131-46397132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7186349	chr16:46397144-46397145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs4966908	chr16:46397145-46397146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs28797876	chr16:46397158-46397159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs4249027	chr16:46397161-46397162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs28775900	chr16:46397180-46397181	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs9708306	chr16:46397185-46397186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs9931095	chr16:46397188-46397189	Weak transcription 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:205 , 50 per page) page: 1 2 3 4 5

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	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
27	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
31	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
32	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
37	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
40	chr16:46388400-46397000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:46388400-46397000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:46388400-46397000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:46388400-46397000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:46388400-46397000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr16:46388400-46397000	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr16:46388400-46397000	ZNF genes & repeats	Colonic Mucosa	Colon
47	chr16:46388400-46397000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr16:46388400-46397000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr16:46388400-46397000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr16:46389200-46404000	ZNF genes & repeats	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links