Variant report

Variant	esv2490955
Chromosome Location	chr16:46387602-46388049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59841424	chr16:46387604-46387605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4967088	chr16:46387611-46387612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60623831	chr16:46387613-46387614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4967091	chr16:46387617-46387618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12325521	chr16:46387618-46387619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111698573	chr16:46387623-46387624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56917277	chr16:46387625-46387626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9937951	chr16:46387628-46387629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28816790	chr16:46387629-46387630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28871043	chr16:46387633-46387634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28810393	chr16:46387634-46387635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28802302	chr16:46387636-46387637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28875505	chr16:46387637-46387638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28846754	chr16:46387639-46387640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9937958	chr16:46387641-46387642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13337987	chr16:46387642-46387643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28749187	chr16:46387648-46387649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28852194	chr16:46387651-46387652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28819719	chr16:46387656-46387657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4329937	chr16:46387662-46387663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28843196	chr16:46387663-46387664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55721007	chr16:46387666-46387667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56126927	chr16:46387668-46387669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28809222	chr16:46387670-46387671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59168201	chr16:46387682-46387683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4392099	chr16:46387683-46387684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28882818	chr16:46387687-46387688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4249055	chr16:46387689-46387690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4967110	chr16:46387690-46387691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11860908	chr16:46387691-46387692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28813795	chr16:46387692-46387693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28834677	chr16:46387693-46387694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28750392	chr16:46387696-46387697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28751021	chr16:46387700-46387701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7199393	chr16:46387704-46387705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28801783	chr16:46387706-46387707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4517816	chr16:46387708-46387709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587748979	chr16:46387710-46387711	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111784720	chr16:46387711-46387712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56057383	chr16:46387716-46387717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28804526	chr16:46387718-46387719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28824536	chr16:46387719-46387720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28836242	chr16:46387720-46387721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59723244	chr16:46387723-46387724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28810449	chr16:46387729-46387730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58270578	chr16:46387732-46387733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9745591	chr16:46387739-46387740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13336354	chr16:46387741-46387742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28789972	chr16:46387745-46387746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28784934	chr16:46387748-46387749	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46388400	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
3	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
15	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
16	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
18	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
21	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr16:46386000-46389200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr16:46386000-46389400	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr16:46386000-46389400	ZNF genes & repeats	HMEC	breast
28	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
29	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
33	chr16:46386800-46388000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:46386800-46388000	Weak transcription	NHDF-Ad	bronchial
35	chr16:46386800-46388000	Weak transcription	NHEK	skin
36	chr16:46386800-46388000	Weak transcription	NHLF	lung
37	chr16:46386800-46388400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:46386800-46388400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr16:46386800-46388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:46386800-46388400	Weak transcription	Lung	lung
41	chr16:46386800-46388400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr16:46386800-46388400	Weak transcription	Right Ventricle	heart
43	chr16:46386800-46388800	Weak transcription	HepG2	liver
44	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr16:46387000-46388000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:46387000-46388200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:46387000-46388200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:46387600-46387800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr16:46387600-46387800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:46387600-46387800	ZNF genes & repeats	Brain Substantia Nigra	brain

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