Variant report

Variant	nsv572439
Chromosome Location	chr16:35228412-35264623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4274 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4274 , 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	rs11863048	chr16:35228412-35228413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201982156	chr16:35228416-35228417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568363644	chr16:35228426-35228427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553733160	chr16:35228443-35228444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565513199	chr16:35228454-35228455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200429245	chr16:35228466-35228467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539536296	chr16:35228467-35228468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201181257	chr16:35228485-35228486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111232806	chr16:35228488-35228489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575711993	chr16:35228493-35228494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544452941	chr16:35228500-35228501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535257763	chr16:35228523-35228524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374829474	chr16:35228528-35228529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368904141	chr16:35228537-35228538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372236178	chr16:35228541-35228542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199831583	chr16:35228556-35228557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375243626	chr16:35228560-35228561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556332229	chr16:35228564-35228565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112002700	chr16:35228576-35228577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575090476	chr16:35228583-35228584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113947531	chr16:35228585-35228586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542108131	chr16:35228617-35228618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201084958	chr16:35228619-35228620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560554127	chr16:35228639-35228640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116865048	chr16:35228649-35228650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140719485	chr16:35228651-35228652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145028391	chr16:35228652-35228653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143464235	chr16:35228653-35228654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143890507	chr16:35228655-35228656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114916252	chr16:35228657-35228658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34769282	chr16:35228675-35228676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117603188	chr16:35228677-35228678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527649396	chr16:35228678-35228679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116995115	chr16:35228679-35228680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546161363	chr16:35228687-35228688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141489244	chr16:35228694-35228695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139990023	chr16:35228695-35228696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564598557	chr16:35228696-35228697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531837197	chr16:35228697-35228698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147106197	chr16:35228698-35228699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146763050	chr16:35228704-35228705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141828806	chr16:35228707-35228708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149895125	chr16:35228718-35228719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561824978	chr16:35228724-35228725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142593931	chr16:35228725-35228726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557152143	chr16:35228756-35228757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199666606	chr16:35228758-35228759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150463745	chr16:35228768-35228769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202078219	chr16:35228771-35228772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141806610	chr16:35228799-35228800	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:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35216200-35229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:35216200-35229000	Weak transcription	Ovary	ovary
3	chr16:35219000-35229000	Weak transcription	Small Intestine	intestine
4	chr16:35220800-35228600	Weak transcription	K562	blood
5	chr16:35220800-35229000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr16:35220800-35229000	Weak transcription	Aorta	Aorta
7	chr16:35220800-35229000	Weak transcription	NH-A	brain
8	chr16:35220800-35229000	Weak transcription	NHLF	lung
9	chr16:35224400-35237800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:35224600-35243000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr16:35225200-35229000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:35226600-35229600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr16:35227000-35229000	Weak transcription	Right Ventricle	heart
14	chr16:35227400-35242800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr16:35227600-35229000	Weak transcription	Fetal Heart	heart
16	chr16:35227800-35229000	Weak transcription	Liver	Liver
17	chr16:35228600-35229600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr16:35228600-35229600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr16:35228800-35229200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:35228800-35229400	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr16:35228800-35229400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr16:35228800-35229600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:35229000-35229200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr16:35229000-35229200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:35229000-35229200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
26	chr16:35229000-35229200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr16:35229000-35229200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:35229000-35229200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:35229000-35229200	ZNF genes & repeats	Fetal Kidney	kidney
30	chr16:35229000-35229200	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
31	chr16:35229000-35229200	ZNF genes & repeats	HSMMtube	muscle
32	chr16:35229000-35229400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
33	chr16:35229000-35229400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr16:35229000-35229400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:35229000-35229400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:35229000-35229400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:35229000-35229400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr16:35229000-35229400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:35229000-35229400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:35229000-35229400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr16:35229000-35229400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr16:35229000-35229400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:35229000-35229400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr16:35229000-35229400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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