Variant report

Variant	nsv431522
Chromosome Location	chr16:82414751-82425634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82401325..82403484-chr16:82424417..82426290,2	K562	blood:
2	chr16:82415353..82417549-chr16:82428298..82430992,2	MCF-7	breast:

Extended variants
information (count: 471 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143738991	chr16:82416006-82416007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190180292	chr16:82416024-82416025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552462842	chr16:82416027-82416028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117091723	chr16:82416082-82416083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192996047	chr16:82416083-82416084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75306859	chr16:82416124-82416125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74601370	chr16:82416153-82416154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535537954	chr16:82416155-82416156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556653249	chr16:82416173-82416174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146300651	chr16:82416177-82416178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113235267	chr16:82416213-82416214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112707681	chr16:82416247-82416248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558802938	chr16:82416292-82416293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369216793	chr16:82416313-82416314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185647133	chr16:82416339-82416340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9936489	chr16:82416341-82416342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76332267	chr16:82416398-82416399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542333056	chr16:82416418-82416419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145598701	chr16:82416434-82416435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530922129	chr16:82416461-82416462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552320295	chr16:82416500-82416501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189499069	chr16:82416518-82416519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528401662	chr16:82416525-82416526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546768565	chr16:82416537-82416538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575592011	chr16:82416556-82416557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568281951	chr16:82416560-82416561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74030392	chr16:82416567-82416568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550633622	chr16:82416571-82416572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180678523	chr16:82416580-82416581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369949328	chr16:82416582-82416583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557223733	chr16:82416591-82416592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548051066	chr16:82416599-82416600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183869986	chr16:82416608-82416609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557373021	chr16:82416615-82416616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188533597	chr16:82416619-82416620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534990370	chr16:82416638-82416639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181231101	chr16:82416649-82416650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574994974	chr16:82416718-82416719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542093854	chr16:82416724-82416725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186471531	chr16:82416748-82416749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116785425	chr16:82416782-82416783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546176211	chr16:82416817-82416818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373565048	chr16:82416867-82416868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191850635	chr16:82416884-82416885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376285237	chr16:82416943-82416944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528366039	chr16:82416954-82416955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546929888	chr16:82416956-82416957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76452162	chr16:82416957-82416958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62038358	chr16:82416978-82416979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553185758	chr16:82416979-82416980	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82416000-82417600	Enhancers	Fetal Brain Male	brain
2	chr16:82416200-82416800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr16:82417000-82421000	Enhancers	Fetal Stomach	stomach
4	chr16:82417200-82417600	Enhancers	GM12878-XiMat	blood
5	chr16:82417200-82417800	Enhancers	Fetal Muscle Trunk	muscle
6	chr16:82417400-82417600	Enhancers	Fetal Lung	lung
7	chr16:82417400-82417800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:82417400-82417800	Enhancers	Fetal Muscle Leg	muscle
9	chr16:82417600-82419000	Weak transcription	Fetal Lung	lung
10	chr16:82417800-82418000	Enhancers	Lung	lung
11	chr16:82417800-82418800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr16:82418800-82419400	Enhancers	Fetal Muscle Trunk	muscle
13	chr16:82419000-82420400	Enhancers	Fetal Lung	lung
14	chr16:82420000-82420200	Enhancers	Fetal Muscle Trunk	muscle
15	chr16:82420000-82420200	Enhancers	Fetal Muscle Leg	muscle
16	chr16:82420000-82420200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr16:82420000-82420600	Enhancers	Fetal Intestine Small	intestine
18	chr16:82420000-82420800	Enhancers	Fetal Heart	heart
19	chr16:82420000-82420800	Enhancers	Lung	lung
20	chr16:82420200-82420800	Enhancers	Rectal Smooth Muscle	rectum
21	chr16:82420600-82421000	Weak transcription	Fetal Intestine Small	intestine
22	chr16:82420800-82422600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:82421000-82421400	Enhancers	Fetal Intestine Small	intestine
24	chr16:82421000-82423000	Weak transcription	Fetal Stomach	stomach
25	chr16:82423000-82424600	Enhancers	Fetal Stomach	stomach
26	chr16:82423600-82423800	Enhancers	Rectal Smooth Muscle	rectum

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