Variant report

Variant	nsv572999
Chromosome Location	chr16:76018396-76055486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1937 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1937 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11649423	chr16:76018396-76018397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115033283	chr16:76018411-76018412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142190583	chr16:76018413-76018414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118038426	chr16:76018466-76018467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544370753	chr16:76018467-76018468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561641359	chr16:76018540-76018541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530310800	chr16:76018567-76018568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146476214	chr16:76018614-76018615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566747003	chr16:76018698-76018699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371536930	chr16:76018712-76018713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182705517	chr16:76018728-76018729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72791348	chr16:76018731-76018732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569348465	chr16:76018732-76018733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147912281	chr16:76018779-76018780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141541610	chr16:76018792-76018793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567580891	chr16:76018831-76018832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1353690	chr16:76018855-76018856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143678746	chr16:76018868-76018869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572515124	chr16:76018872-76018873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370831345	chr16:76018886-76018887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148089396	chr16:76018889-76018890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375845923	chr16:76018910-76018911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574256355	chr16:76018951-76018952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574958833	chr16:76018953-76018954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552789972	chr16:76018961-76018962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544661716	chr16:76018983-76018984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370310769	chr16:76019021-76019022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186703518	chr16:76019079-76019080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540559583	chr16:76019111-76019112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562361214	chr16:76019122-76019123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564739280	chr16:76019146-76019147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191560002	chr16:76019163-76019164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576025067	chr16:76019187-76019188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202169647	chr16:76019188-76019189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372567786	chr16:76019193-76019194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141974423	chr16:76019214-76019215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569410916	chr16:76019243-76019244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77425880	chr16:76019270-76019271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550800560	chr16:76019319-76019320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78594816	chr16:76019321-76019322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544996777	chr16:76019336-76019337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536406801	chr16:76019337-76019338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183989853	chr16:76019341-76019342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150277399	chr16:76019422-76019423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368973766	chr16:76019436-76019437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7191424	chr16:76019450-76019451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527369263	chr16:76019528-76019529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111511328	chr16:76019532-76019533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34461522	chr16:76019542-76019543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575021672	chr16:76019550-76019551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76015600-76018800	Enhancers	Brain Germinal Matrix	brain
3	chr16:76016200-76018400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr16:76017200-76018400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr16:76017200-76018400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr16:76017400-76018400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr16:76017400-76018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr16:76018200-76018400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr16:76019600-76020000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:76020000-76029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:76029400-76030600	Enhancers	Brain Germinal Matrix	brain
12	chr16:76029400-76032800	Enhancers	HMEC	breast
13	chr16:76029600-76032400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:76032400-76049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:76035600-76035800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:76037600-76038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:76039200-76039400	Enhancers	Brain Substantia Nigra	brain
18	chr16:76043200-76043400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:76049200-76051400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:76051400-76055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:76055200-76056400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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