Variant report

Variant	esv3397250
Chromosome Location	chr16:46400191-46405982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2703 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2703 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7205727	chr16:46400191-46400192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10163258	chr16:46400192-46400193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11488976	chr16:46400195-46400196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28831194	chr16:46400197-46400198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28805086	chr16:46400198-46400199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28880974	chr16:46400199-46400200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28858817	chr16:46400200-46400201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28870680	chr16:46400201-46400202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28772675	chr16:46400203-46400204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28824610	chr16:46400204-46400205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9939850	chr16:46400207-46400208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28828407	chr16:46400208-46400209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28786162	chr16:46400210-46400211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4967000	chr16:46400212-46400213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9746084	chr16:46400214-46400215	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4620988	chr16:46400218-46400219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9708442	chr16:46400219-46400220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28844700	chr16:46400221-46400222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28794288	chr16:46400222-46400223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28885122	chr16:46400227-46400228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4486909	chr16:46400230-46400231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9939854	chr16:46400231-46400232	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9630680	chr16:46400232-46400233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28859728	chr16:46400234-46400235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28793964	chr16:46400235-46400236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9745738	chr16:46400238-46400239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4967002	chr16:46400240-46400241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9746675	chr16:46400242-46400243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28877415	chr16:46400246-46400247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28823605	chr16:46400247-46400248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9635601	chr16:46400248-46400249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28873811	chr16:46400249-46400250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28848633	chr16:46400251-46400252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4271613	chr16:46400252-46400253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28881205	chr16:46400259-46400260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28814430	chr16:46400261-46400262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10468391	chr16:46400262-46400263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7350880	chr16:46400263-46400264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7350848	chr16:46400264-46400265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10468392	chr16:46400265-46400266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28767197	chr16:46400268-46400269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9674349	chr16:46400269-46400270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28862005	chr16:46400272-46400273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28783196	chr16:46400276-46400277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4967003	chr16:46400284-46400285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4632155	chr16:46400286-46400287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4588008	chr16:46400287-46400288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4967004	chr16:46400289-46400290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28855703	chr16:46400290-46400291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28773253	chr16:46400292-46400293	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:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr16:46398000-46404000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr16:46398200-46401800	ZNF genes & repeats	Dnd41	blood
8	chr16:46398200-46402000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr16:46398200-46402000	ZNF genes & repeats	Fetal Brain Male	brain
10	chr16:46398200-46402000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
11	chr16:46398200-46402600	ZNF genes & repeats	Fetal Heart	heart
12	chr16:46398200-46404000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr16:46398200-46404000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:46398200-46404000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr16:46398200-46404000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr16:46398200-46404000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr16:46398200-46404000	ZNF genes & repeats	Liver	Liver
18	chr16:46398200-46404000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr16:46398200-46404000	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr16:46398200-46404000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
21	chr16:46398200-46404000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr16:46398400-46401800	ZNF genes & repeats	HepG2	liver
23	chr16:46398400-46401800	ZNF genes & repeats	HUVEC	blood vessel
24	chr16:46398400-46402000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr16:46398400-46402000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr16:46398400-46402000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr16:46398400-46402000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr16:46398400-46402000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr16:46398400-46402000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:46398400-46402000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:46398400-46402000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
32	chr16:46398400-46402000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr16:46398400-46404000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr16:46398400-46404000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr16:46398400-46404000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr16:46398400-46404000	ZNF genes & repeats	HMEC	breast
37	chr16:46398600-46401800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr16:46398600-46402000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:46398600-46402000	ZNF genes & repeats	Gastric	stomach
40	chr16:46398600-46402000	ZNF genes & repeats	Left Ventricle	heart
41	chr16:46399000-46400600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr16:46399000-46401000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:46399000-46401000	Weak transcription	Right Atrium	heart
44	chr16:46399200-46400600	Weak transcription	HSMMtube	muscle
45	chr16:46399200-46400800	Weak transcription	K562	blood
46	chr16:46399200-46400800	Weak transcription	NHDF-Ad	bronchial
47	chr16:46399200-46400800	Weak transcription	NHEK	skin
48	chr16:46399200-46401000	Weak transcription	NHLF	lung
49	chr16:46399200-46401200	Weak transcription	Right Ventricle	heart
50	chr16:46399400-46400600	Weak transcription	Aorta	Aorta

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