Variant report

Variant	esv3329323
Chromosome Location	chr16:46397657-46398323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7199208	chr16:46397657-46397658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs9929465	chr16:46397658-46397659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs4398129	chr16:46397659-46397660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12325522	chr16:46397661-46397662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs28860309	chr16:46397663-46397664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28840102	chr16:46397667-46397668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9708590	chr16:46397668-46397669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7498581	chr16:46397669-46397670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs13333882	chr16:46397670-46397671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs13337993	chr16:46397671-46397672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs4474715	chr16:46397672-46397673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11247405	chr16:46397674-46397675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs9937965	chr16:46397676-46397677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs9745446	chr16:46397678-46397679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs28837088	chr16:46397680-46397681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs9931552	chr16:46397681-46397682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs28896000	chr16:46397682-46397683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs28757429	chr16:46397685-46397686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs4966918	chr16:46397687-46397688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs28844421	chr16:46397688-46397689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7500297	chr16:46397689-46397690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs4966919	chr16:46397690-46397691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs28833853	chr16:46397691-46397692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs11247406	chr16:46397692-46397693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs4966431	chr16:46397695-46397696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs7185021	chr16:46397696-46397697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7498583	chr16:46397697-46397698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs28859997	chr16:46397699-46397700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs4966920	chr16:46397700-46397701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs28887922	chr16:46397701-46397702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7185148	chr16:46397709-46397710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4356499	chr16:46397710-46397711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs13334940	chr16:46397711-46397712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4616307	chr16:46397712-46397713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs7203295	chr16:46397714-46397715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs9922545	chr16:46397715-46397716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs4319788	chr16:46397720-46397721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs7199400	chr16:46397723-46397724	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs28775306	chr16:46397730-46397731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs28788867	chr16:46397731-46397732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs13338040	chr16:46397732-46397733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11247407	chr16:46397734-46397735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7187516	chr16:46397736-46397737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7500319	chr16:46397738-46397739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs4563057	chr16:46397740-46397741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9745453	chr16:46397744-46397745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs55638388	chr16:46397746-46397747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs9929551	chr16:46397750-46397751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs28785343	chr16:46397752-46397753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs28807746	chr16:46397756-46397757	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:119 , 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	chr16:46397000-46398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:46397000-46398200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:46397000-46398200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:46397000-46398200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:46397000-46398200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr16:46397000-46398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:46397000-46398200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:46397000-46398200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:46397000-46398200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:46397000-46398200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr16:46397000-46398200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:46397000-46398200	Weak transcription	Adipose Nuclei	Adipose
16	chr16:46397000-46398200	Weak transcription	Liver	Liver
17	chr16:46397000-46398200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:46397000-46398200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr16:46397000-46398200	Weak transcription	Fetal Brain Male	brain
20	chr16:46397000-46398200	Weak transcription	Fetal Heart	heart
21	chr16:46397000-46398200	Weak transcription	Fetal Intestine Large	intestine
22	chr16:46397000-46398200	Weak transcription	Fetal Stomach	stomach
23	chr16:46397000-46398200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:46397000-46398200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:46397000-46398200	Weak transcription	Dnd41	blood
26	chr16:46397000-46398200	Weak transcription	K562	blood
27	chr16:46397000-46398200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:46397000-46398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:46397000-46398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:46397000-46398400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:46397000-46398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr16:46397000-46398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:46397000-46398400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:46397000-46398400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr16:46397000-46398400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr16:46397000-46398400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr16:46397000-46398400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:46397000-46398400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:46397000-46398400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:46397000-46398400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr16:46397000-46398400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:46397000-46398400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr16:46397000-46398400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:46397000-46398400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:46397000-46398400	Weak transcription	Brain Anterior Caudate	brain
46	chr16:46397000-46398400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:46397000-46398400	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:46397000-46398400	Weak transcription	Fetal Kidney	kidney
49	chr16:46397000-46398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr16:46397000-46398400	Weak transcription	Fetal Lung	lung

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