Variant report

Variant	nsv572389
Chromosome Location	chr16:34887695-34946088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1092 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1092 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34529986	chr16:34887695-34887696	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375117759	chr16:34887719-34887720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76825236	chr16:34887768-34887769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564255356	chr16:34887789-34887790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572969887	chr16:34887801-34887802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540024539	chr16:34887804-34887805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192289359	chr16:34887810-34887811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184585359	chr16:34887819-34887820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs56150069	chr16:34887828-34887829	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541859175	chr16:34887850-34887851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188950793	chr16:34887852-34887853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571793678	chr16:34887856-34887857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181924226	chr16:34887927-34887928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564328619	chr16:34887943-34887944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs531460326	chr16:34887962-34887963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550058430	chr16:34888011-34888012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550268020	chr16:34888012-34888013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs118072710	chr16:34888013-34888014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375388908	chr16:34888017-34888018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs547447331	chr16:34888050-34888051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371298468	chr16:34888058-34888059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138393030	chr16:34888079-34888080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558854477	chr16:34888094-34888095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571026033	chr16:34888158-34888159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538113028	chr16:34888260-34888261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185412919	chr16:34888277-34888278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148998139	chr16:34888282-34888283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs143810172	chr16:34888328-34888329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553783689	chr16:34888364-34888365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs116773475	chr16:34888374-34888375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545897491	chr16:34888378-34888379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564086992	chr16:34888390-34888391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs547528714	chr16:34897400-34897401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557542380	chr16:34897409-34897410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75072593	chr16:34897469-34897470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs569464134	chr16:34897512-34897513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377396874	chr16:34897513-34897514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536894424	chr16:34897521-34897522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs35741461	chr16:34897540-34897541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188390223	chr16:34897598-34897599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78023238	chr16:34897618-34897619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs367998649	chr16:34897628-34897629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558704926	chr16:34897684-34897685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs577821575	chr16:34897690-34897691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554747440	chr16:34897734-34897735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562680505	chr16:34897738-34897739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529833101	chr16:34897757-34897758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370123973	chr16:34897785-34897786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs541684903	chr16:34897834-34897835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560379180	chr16:34897842-34897843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34886800-34888400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:34897400-34898200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:34905600-34905800	ZNF genes & repeats	Psoas Muscle	Psoas
4	chr16:34909200-34909800	Active TSS	Fetal Heart	heart
5	chr16:34910800-34916200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:34919200-34927600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:34920600-34921000	Enhancers	Left Ventricle	heart
8	chr16:34920600-34921600	Enhancers	Right Atrium	heart
9	chr16:34928200-34929800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr16:34935600-34937200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr16:34938200-34939400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:34943800-34944200	Active TSS	Fetal Heart	heart
13	chr16:34944200-34946000	Weak transcription	Fetal Heart	heart
14	chr16:34945200-34947600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr16:34945400-34946800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr16:34945600-34946200	Enhancers	Left Ventricle	heart
17	chr16:34945600-34946200	Enhancers	Right Atrium	heart
18	chr16:34946000-34946400	Active TSS	Fetal Heart	heart

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