Variant report

Variant	esv3385060
Chromosome Location	chr16:46398288-46398489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9934106	chr16:46398288-46398289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs28829880	chr16:46398289-46398290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12600152	chr16:46398291-46398292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12446639	chr16:46398294-46398295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs57695126	chr16:46398295-46398296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs8062584	chr16:46398296-46398297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs57072062	chr16:46398303-46398304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4249109	chr16:46398304-46398305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs28825415	chr16:46398305-46398306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs59233824	chr16:46398307-46398308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs60281132	chr16:46398309-46398310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs139427776	chr16:46398310-46398311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28766414	chr16:46398311-46398312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs150052387	chr16:46398313-46398314	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs28859906	chr16:46398314-46398315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs28827010	chr16:46398315-46398316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs28829028	chr16:46398319-46398320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113988443	chr16:46398320-46398321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13331721	chr16:46398321-46398322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138029753	chr16:46398324-46398325	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs6422025	chr16:46398325-46398326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7186134	chr16:46398326-46398327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs587720762	chr16:46398328-46398329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4580190	chr16:46398330-46398331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11860599	chr16:46398332-46398333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4619582	chr16:46398333-46398334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4583258	chr16:46398337-46398338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs4966937	chr16:46398340-46398341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10163382	chr16:46398341-46398342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112242462	chr16:46398342-46398343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs28818284	chr16:46398345-46398346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs60435727	chr16:46398348-46398349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs28799350	chr16:46398351-46398352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4335792	chr16:46398354-46398355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs28803491	chr16:46398355-46398356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs58477753	chr16:46398358-46398359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs28826078	chr16:46398360-46398361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs28866509	chr16:46398368-46398369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs61079015	chr16:46398369-46398370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs28887550	chr16:46398377-46398378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4966938	chr16:46398378-46398379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4966439	chr16:46398380-46398381	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs28812307	chr16:46398384-46398385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4378771	chr16:46398386-46398387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs4603736	chr16:46398389-46398390	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs28767494	chr16:46398390-46398391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs9746201	chr16:46398393-46398394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs4603579	chr16:46398394-46398395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs28750369	chr16:46398395-46398396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs8051892	chr16:46398397-46398398	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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
2	chr16:46389200-46404000	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr16:46389200-46404000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr16:46397000-46398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:46397000-46398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:46397000-46398400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:46397000-46398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:46397000-46398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:46397000-46398400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr16:46397000-46398400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:46397000-46398400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:46397000-46398400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:46397000-46398400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:46397000-46398400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:46397000-46398400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:46397000-46398400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:46397000-46398400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:46397000-46398400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:46397000-46398400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:46397000-46398400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:46397000-46398400	Weak transcription	Brain Anterior Caudate	brain
22	chr16:46397000-46398400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:46397000-46398400	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:46397000-46398400	Weak transcription	Fetal Kidney	kidney
25	chr16:46397000-46398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:46397000-46398400	Weak transcription	Fetal Lung	lung
27	chr16:46397000-46398400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:46397000-46398400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr16:46397000-46398400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:46397000-46398400	Weak transcription	Right Ventricle	heart
31	chr16:46397000-46398400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:46397000-46398400	Weak transcription	Small Intestine	intestine
33	chr16:46397000-46398400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:46397000-46398400	Weak transcription	A549	lung
35	chr16:46397000-46398400	Weak transcription	GM12878-XiMat	blood
36	chr16:46397000-46398400	Weak transcription	Hela-S3	cervix
37	chr16:46397000-46398400	Weak transcription	HepG2	liver
38	chr16:46397000-46398400	Weak transcription	HSMM	muscle
39	chr16:46397000-46398400	Weak transcription	HSMMtube	muscle
40	chr16:46397000-46398400	Weak transcription	HUVEC	blood vessel
41	chr16:46397000-46398400	Weak transcription	Osteobl	bone
42	chr16:46397000-46398600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:46397000-46398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:46397000-46398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:46397000-46398600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr16:46397000-46398600	Weak transcription	Aorta	Aorta
47	chr16:46397000-46398600	Weak transcription	Brain Angular Gyrus	brain
48	chr16:46397000-46398600	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:46397000-46398600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:46397000-46398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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