Variant report

Variant	esv2433149
Chromosome Location	chr16:46390542-46390708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28792112	chr16:46390542-46390543	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs28889576	chr16:46390543-46390544	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs28870707	chr16:46390547-46390548	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs28842781	chr16:46390549-46390550	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs8050105	chr16:46390550-46390551	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9745751	chr16:46390552-46390553	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs4246373	chr16:46390553-46390554	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10438643	chr16:46390554-46390555	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4967545	chr16:46390556-46390557	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28886648	chr16:46390557-46390558	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28840234	chr16:46390563-46390564	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9745475	chr16:46390564-46390565	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs9673898	chr16:46390566-46390567	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4273057	chr16:46390567-46390568	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28891675	chr16:46390570-46390571	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4967546	chr16:46390575-46390576	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs28770771	chr16:46390578-46390579	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs56099439	chr16:46390581-46390582	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs6598752	chr16:46390585-46390586	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs28809042	chr16:46390586-46390587	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28816202	chr16:46390587-46390588	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4627388	chr16:46390592-46390593	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4396557	chr16:46390593-46390594	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs60586536	chr16:46390594-46390595	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs28893917	chr16:46390595-46390596	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4494573	chr16:46390599-46390600	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs28762090	chr16:46390601-46390602	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs55719721	chr16:46390603-46390604	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4471700	chr16:46390609-46390610	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs4967547	chr16:46390612-46390613	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs58102858	chr16:46390617-46390618	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs28891832	chr16:46390621-46390622	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs28802426	chr16:46390623-46390624	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28846763	chr16:46390625-46390626	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs28776604	chr16:46390629-46390630	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs11247515	chr16:46390630-46390631	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs28873221	chr16:46390631-46390632	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4967548	chr16:46390633-46390634	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28859738	chr16:46390635-46390636	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144887711	chr16:46390636-46390637	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4967549	chr16:46390637-46390638	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs28896003	chr16:46390642-46390643	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs28840534	chr16:46390643-46390644	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28829571	chr16:46390644-46390645	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28765167	chr16:46390645-46390646	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs28783085	chr16:46390646-46390647	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11247516	chr16:46390647-46390648	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs56968315	chr16:46390648-46390649	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9972639	chr16:46390649-46390650	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs9635624	chr16:46390650-46390651	ZNF genes & repeats Bivalent/Poised TSS	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
2	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
14	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
17	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
20	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
29	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr16:46387600-46391800	ZNF genes & repeats	Hela-S3	cervix
31	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
32	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
33	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
36	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
37	chr16:46388000-46394600	ZNF genes & repeats	HSMMtube	muscle
38	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
43	chr16:46388200-46393400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:46388200-46393400	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr16:46388200-46393400	ZNF genes & repeats	K562	blood
46	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
50	chr16:46388400-46393400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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