Variant report

Variant	nsv572441
Chromosome Location	chr16:35244750-35285582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4396 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4396 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12927602	chr16:35244750-35244751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566160269	chr16:35244765-35244766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143557930	chr16:35244779-35244780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200402444	chr16:35244786-35244787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113558576	chr16:35244795-35244796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551117254	chr16:35244800-35244801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201102826	chr16:35244808-35244809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371857437	chr16:35244810-35244811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112746227	chr16:35244814-35244815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536980098	chr16:35244826-35244827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555622139	chr16:35244832-35244833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573597941	chr16:35244845-35244846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534610223	chr16:35244846-35244847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188913881	chr16:35244854-35244855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371501703	chr16:35244861-35244862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186861314	chr16:35244875-35244876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577773638	chr16:35244878-35244879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552766168	chr16:35244880-35244881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181970922	chr16:35244883-35244884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186347115	chr16:35244889-35244890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553780322	chr16:35244902-35244903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576688343	chr16:35244905-35244906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543794116	chr16:35244918-35244919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202230237	chr16:35244927-35244928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200140053	chr16:35244942-35244943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374401115	chr16:35244947-35244948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71378685	chr16:35244955-35244956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529315352	chr16:35244960-35244961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547720490	chr16:35244962-35244963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201294629	chr16:35244970-35244971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533215931	chr16:35244971-35244972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188393312	chr16:35244979-35244980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541448206	chr16:35244983-35244984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536841499	chr16:35244993-35244994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28821558	chr16:35245003-35245004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567507049	chr16:35245007-35245008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368416618	chr16:35245011-35245012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534331900	chr16:35245021-35245022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556569108	chr16:35245022-35245023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371444005	chr16:35245043-35245044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374366867	chr16:35245044-35245045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192264119	chr16:35245058-35245059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552899953	chr16:35245067-35245068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377319110	chr16:35245068-35245069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370631191	chr16:35245069-35245070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375275253	chr16:35245071-35245072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367869223	chr16:35245073-35245074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576749820	chr16:35245075-35245076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543991944	chr16:35245076-35245077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562245473	chr16:35245081-35245082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	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
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35239800-35250200	Weak transcription	K562	blood
2	chr16:35244600-35245200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:35248600-35250000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr16:35248800-35250400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:35249000-35249400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr16:35249000-35249400	ZNF genes & repeats	HUVEC	blood vessel
7	chr16:35249000-35250400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:35249000-35250600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:35249000-35250600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr16:35249000-35250600	Active TSS	Fetal Heart	heart
11	chr16:35249000-35250600	ZNF genes & repeats	Fetal Lung	lung
12	chr16:35249000-35250600	ZNF genes & repeats	HMEC	breast
13	chr16:35249400-35250400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr16:35250200-35250400	ZNF genes & repeats	HUVEC	blood vessel
15	chr16:35250200-35250400	ZNF genes & repeats	NHLF	lung
16	chr16:35250200-35250600	ZNF genes & repeats	HSMM	muscle
17	chr16:35250200-35250600	ZNF genes & repeats	HSMMtube	muscle
18	chr16:35250200-35250600	ZNF genes & repeats	K562	blood
19	chr16:35250200-35250600	ZNF genes & repeats	NH-A	brain
20	chr16:35250600-35267400	Weak transcription	K562	blood
21	chr16:35256600-35261600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr16:35257000-35260000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:35257600-35262000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr16:35259000-35259800	ZNF genes & repeats	HUVEC	blood vessel
25	chr16:35259000-35261400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr16:35259000-35262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr16:35259200-35259600	Weak transcription	Aorta	Aorta
28	chr16:35259200-35260000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:35259200-35262000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:35259400-35260000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:35259600-35259800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr16:35259600-35259800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr16:35259600-35259800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:35259600-35259800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr16:35259600-35259800	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr16:35259600-35259800	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr16:35259600-35259800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr16:35259600-35259800	Bivalent Enhancer	Gastric	stomach
43	chr16:35259600-35259800	ZNF genes & repeats	Stomach Mucosa	stomach
44	chr16:35259600-35259800	ZNF genes & repeats	GM12878-XiMat	blood
45	chr16:35259600-35260000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:35259600-35260000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr16:35259600-35260000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr16:35259600-35260000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
49	chr16:35259600-35260000	ZNF genes & repeats	Aorta	Aorta
50	chr16:35259600-35260000	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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