Variant report

Variant	esv3379793
Chromosome Location	chr16:46393636-46413404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7283 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:7283 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59804327	chr16:46393637-46393638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28782201	chr16:46393641-46393642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28798080	chr16:46393645-46393646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28842187	chr16:46393647-46393648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147697863	chr16:46393649-46393650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28762703	chr16:46393653-46393654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28813419	chr16:46393654-46393655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4967770	chr16:46393659-46393660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9931468	chr16:46393678-46393679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28865393	chr16:46393679-46393680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71275292	chr16:46393681-46393682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371878617	chr16:46393682-46393683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4009103	chr16:46393686-46393687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28883976	chr16:46393688-46393689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9921305	chr16:46393692-46393693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71255847	chr16:46393693-46393694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28820396	chr16:46393694-46393695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9652703	chr16:46393697-46393698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12102853	chr16:46393704-46393705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28837977	chr16:46393708-46393709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28846175	chr16:46393713-46393714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28836789	chr16:46393719-46393720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56921059	chr16:46393730-46393731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9328709	chr16:46393731-46393732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58909297	chr16:46393736-46393737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60109546	chr16:46393742-46393743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4310877	chr16:46393743-46393744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28853362	chr16:46393745-46393746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11247548	chr16:46393747-46393748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4966826	chr16:46393751-46393752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60867151	chr16:46393761-46393762	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151130692	chr16:46393768-46393769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61371424	chr16:46393772-46393773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150313833	chr16:46393783-46393784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28843984	chr16:46393784-46393785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8044422	chr16:46393790-46393791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28784079	chr16:46393793-46393794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8044428	chr16:46393794-46393795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57787414	chr16:46393801-46393802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28877897	chr16:46393802-46393803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9652766	chr16:46393806-46393807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9745633	chr16:46393808-46393809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28868636	chr16:46393809-46393810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28802636	chr16:46393810-46393811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9673944	chr16:46393811-46393812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9924828	chr16:46393812-46393813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9708404	chr16:46393814-46393815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4967771	chr16:46393816-46393817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9746603	chr16:46393817-46393818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28813687	chr16:46393818-46393819	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:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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

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