Variant report

Variant	nsv517097
Chromosome Location	chr16:35213863-35249350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4252 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4252 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2219964	chr16:35213863-35213864	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531072835	chr16:35213864-35213865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561340126	chr16:35213876-35213877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549486685	chr16:35213879-35213880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567356133	chr16:35213885-35213886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572729391	chr16:35213908-35213909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534765989	chr16:35213927-35213928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542951342	chr16:35213937-35213938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187915573	chr16:35213951-35213952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571555269	chr16:35213953-35213954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531848167	chr16:35213954-35213955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8189647	chr16:35213979-35213980	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141068483	chr16:35214004-35214005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138173130	chr16:35214008-35214009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199862722	chr16:35214020-35214021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185557366	chr16:35214021-35214022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111396893	chr16:35214049-35214050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201531433	chr16:35214051-35214052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200134717	chr16:35214053-35214054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149549185	chr16:35214077-35214078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535952560	chr16:35214092-35214093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561571986	chr16:35214102-35214103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574173548	chr16:35214103-35214104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541578920	chr16:35214111-35214112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559675285	chr16:35214117-35214118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200748909	chr16:35214119-35214120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376144859	chr16:35214123-35214124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545711601	chr16:35214143-35214144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563711272	chr16:35214151-35214152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530884052	chr16:35214161-35214162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144030058	chr16:35214165-35214166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62060567	chr16:35214188-35214189	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192535234	chr16:35214209-35214210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184529232	chr16:35214218-35214219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527439951	chr16:35214228-35214229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544547805	chr16:35214258-35214259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546803740	chr16:35214284-35214285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571109304	chr16:35214325-35214326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538589575	chr16:35214345-35214346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550421620	chr16:35214360-35214361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186732338	chr16:35214375-35214376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535817846	chr16:35214383-35214384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554383784	chr16:35214414-35214415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566594961	chr16:35214429-35214430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142102949	chr16:35214445-35214446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548790281	chr16:35214461-35214462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578209827	chr16:35214465-35214466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114755782	chr16:35214508-35214509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557638385	chr16:35214517-35214518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575728170	chr16:35214562-35214563	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:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35205600-35221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:35206200-35215800	Weak transcription	NH-A	brain
3	chr16:35211600-35221200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr16:35213400-35215800	Weak transcription	Small Intestine	intestine
5	chr16:35213600-35215800	Weak transcription	Aorta	Aorta
6	chr16:35213600-35215800	Weak transcription	Left Ventricle	heart
7	chr16:35214000-35215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:35214400-35216600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr16:35214400-35220600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr16:35215400-35216200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr16:35215400-35216400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:35215600-35216200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:35215800-35216000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:35215800-35216000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:35215800-35216000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:35215800-35216000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr16:35215800-35216000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:35215800-35216000	Flanking Active TSS	Aorta	Aorta
19	chr16:35215800-35216200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr16:35215800-35216200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:35215800-35216200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:35215800-35216200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:35215800-35216200	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr16:35215800-35216200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr16:35215800-35216200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr16:35215800-35216200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:35215800-35216200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr16:35215800-35216200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
29	chr16:35215800-35216200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
30	chr16:35215800-35216200	ZNF genes & repeats	Liver	Liver
31	chr16:35215800-35216200	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr16:35215800-35216200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
33	chr16:35215800-35216200	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr16:35215800-35216200	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr16:35215800-35216200	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr16:35215800-35216200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr16:35215800-35216200	ZNF genes & repeats	Fetal Lung	lung
38	chr16:35215800-35216200	ZNF genes & repeats	Gastric	stomach
39	chr16:35215800-35216200	ZNF genes & repeats	Left Ventricle	heart
40	chr16:35215800-35216200	ZNF genes & repeats	Ovary	ovary
41	chr16:35215800-35216200	ZNF genes & repeats	Psoas Muscle	Psoas
42	chr16:35215800-35216200	Active TSS	Right Atrium	heart
43	chr16:35215800-35216200	ZNF genes & repeats	Small Intestine	intestine
44	chr16:35215800-35216200	ZNF genes & repeats	HUVEC	blood vessel
45	chr16:35215800-35216200	ZNF genes & repeats	NH-A	brain
46	chr16:35216000-35216200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr16:35216000-35216200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr16:35216000-35216200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr16:35216000-35216200	Active TSS	Aorta	Aorta
50	chr16:35216000-35216200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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