Variant report

Variant	nsv103854
Chromosome Location	chr16:72010180-72011459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11648557	chr16:72010192-72010193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566756412	chr16:72010207-72010208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8063234	chr16:72010230-72010231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558185054	chr16:72010272-72010273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550475253	chr16:72010295-72010296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570222837	chr16:72010403-72010404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374506791	chr16:72010419-72010420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556171301	chr16:72010427-72010428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574625291	chr16:72010433-72010434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8048292	chr16:72010484-72010485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554125885	chr16:72010485-72010486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371920405	chr16:72010498-72010499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572243783	chr16:72010518-72010519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137990679	chr16:72010530-72010531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113888371	chr16:72010635-72010636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565336598	chr16:72010664-72010665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8048630	chr16:72010673-72010674	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148685971	chr16:72010695-72010696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562928351	chr16:72010705-72010706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8047837	chr16:72010728-72010729	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548828155	chr16:72010738-72010739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371859409	chr16:72010742-72010743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527839521	chr16:72010743-72010744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572597539	chr16:72010770-72010771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35263815	chr16:72010809-72010810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541151144	chr16:72010828-72010829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553080378	chr16:72010834-72010835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555297472	chr16:72010851-72010852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552396380	chr16:72010858-72010859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575140365	chr16:72010860-72010861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570210346	chr16:72010876-72010877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574574598	chr16:72010888-72010889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549498235	chr16:72010894-72010895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189958279	chr16:72010899-72010900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201012835	chr16:72010917-72010918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535127994	chr16:72010931-72010932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114028330	chr16:72010934-72010935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182875641	chr16:72010937-72010938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539632265	chr16:72010942-72010943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147455858	chr16:72010953-72010954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577241615	chr16:72010974-72010975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544725969	chr16:72010982-72010983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7188827	chr16:72010986-72010987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528039655	chr16:72010996-72010997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560714912	chr16:72011016-72011017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574747229	chr16:72011033-72011034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3929023	chr16:72011040-72011041	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549216594	chr16:72011068-72011069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562863104	chr16:72011081-72011082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369391157	chr16:72011114-72011115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71999600-72010600	Weak transcription	Liver	Liver
2	chr16:72007200-72013400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:72008800-72013400	Weak transcription	HepG2	liver
4	chr16:72010600-72011400	Strong transcription	Liver	Liver
5	chr16:72011400-72016000	Weak transcription	Liver	Liver

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