Variant report

Variant	nsv977097
Chromosome Location	chr16:81155599-81157109
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	chr16:81155345..81157687-chr16:81159354..81162522,3	MCF-7	breast:
2	chr16:81152674..81158113-chr16:81158859..81162763,5	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548181448	chr16:81155622-81155623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10871402	chr16:81155657-81155658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533592545	chr16:81155666-81155667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9940240	chr16:81155676-81155677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141029384	chr16:81155713-81155714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534653935	chr16:81155734-81155735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567198383	chr16:81155739-81155740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191928740	chr16:81155769-81155770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568234446	chr16:81155786-81155787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372641959	chr16:81155789-81155790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536174550	chr16:81155793-81155794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12921547	chr16:81155809-81155810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536260707	chr16:81155812-81155813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376700850	chr16:81155837-81155838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576128935	chr16:81155838-81155839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59984426	chr16:81155852-81155853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76424306	chr16:81155867-81155868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577352093	chr16:81155875-81155876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541388887	chr16:81155902-81155903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183837960	chr16:81155911-81155912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575000074	chr16:81155919-81155920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377107276	chr16:81155921-81155922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7203795	chr16:81155941-81155942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78842035	chr16:81155943-81155944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541856202	chr16:81155948-81155949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7186516	chr16:81155954-81155955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7186522	chr16:81155960-81155961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530673003	chr16:81155963-81155964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545907589	chr16:81156016-81156017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186697535	chr16:81156086-81156087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528269850	chr16:81156128-81156129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546442169	chr16:81156139-81156140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4533301	chr16:81156161-81156162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528553034	chr16:81156166-81156167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548221445	chr16:81156173-81156174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569705540	chr16:81156193-81156194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4479243	chr16:81156200-81156201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558011921	chr16:81156233-81156234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182760140	chr16:81156247-81156248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535237219	chr16:81156254-81156255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540298879	chr16:81156279-81156280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575213447	chr16:81156286-81156287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186999262	chr16:81156287-81156288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557038633	chr16:81156294-81156295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575297706	chr16:81156315-81156316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560137943	chr16:81156321-81156322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191469380	chr16:81156324-81156325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564220739	chr16:81156342-81156343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367653949	chr16:81156343-81156344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575894882	chr16:81156345-81156346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81141200-81156600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:81141200-81169600	Weak transcription	Brain Anterior Caudate	brain
4	chr16:81141400-81169600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:81141400-81169600	Weak transcription	Brain Hippocampus Middle	brain
6	chr16:81147800-81156800	Weak transcription	Adipose Nuclei	Adipose
7	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:81154000-81156600	Weak transcription	HepG2	liver
9	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
10	chr16:81154400-81169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:81155000-81156000	Enhancers	Placenta	Placenta
12	chr16:81155000-81161000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:81155200-81155600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:81155400-81155600	Bivalent Enhancer	K562	blood
15	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
16	chr16:81155600-81160200	Weak transcription	Ovary	ovary
17	chr16:81155600-81160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:81156000-81156400	Weak transcription	Placenta	Placenta
19	chr16:81156400-81157400	Enhancers	Fetal Intestine Small	intestine
20	chr16:81156400-81157600	Enhancers	Placenta	Placenta
21	chr16:81156600-81156800	Enhancers	HepG2	liver
22	chr16:81156600-81157600	Enhancers	Liver	Liver
23	chr16:81156800-81157000	Flanking Active TSS	HepG2	liver
24	chr16:81156800-81157600	Strong transcription	Adipose Nuclei	Adipose
25	chr16:81156800-81157600	Bivalent Enhancer	K562	blood
26	chr16:81157000-81157200	Enhancers	HepG2	liver

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