Variant report

Variant	nsv573347
Chromosome Location	chr16:81159437-81164460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81159689..81161686-chr16:81165248..81167111,2	MCF-7	breast:
2	chr16:81152674..81158113-chr16:81158859..81162763,5	K562	blood:
3	chr16:81160894..81162615-chr16:81168602..81170831,2	MCF-7	breast:
4	chr16:81163789..81165490-chr16:81205338..81207838,2	MCF-7	breast:
5	chr16:81155345..81157687-chr16:81159354..81162522,3	MCF-7	breast:
6	chr16:81160768..81163700-chr16:81169451..81173770,5	MCF-7	breast:
7	chr16:81133429..81135383-chr16:81162672..81165434,2	K562	blood:

Variant related genes	Relation type
ENSG00000166473	chromatin interactions

Extended variants
information (count: 339 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9745992	chr16:81159437-81159438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9745817	chr16:81159440-81159441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183967789	chr16:81159459-81159460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565719128	chr16:81159460-81159461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9746559	chr16:81159467-81159468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547475528	chr16:81159474-81159475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142239212	chr16:81159553-81159554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570017693	chr16:81159563-81159564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537659441	chr16:81159574-81159575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75235960	chr16:81159577-81159578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577512661	chr16:81159586-81159587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541735761	chr16:81159609-81159610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12932682	chr16:81159640-81159641	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs35008336	chr16:81159685-81159686	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188863548	chr16:81159728-81159729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116029276	chr16:81159732-81159733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575211570	chr16:81159766-81159767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7200569	chr16:81159781-81159782	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs537104709	chr16:81159805-81159806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139158959	chr16:81159808-81159809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564126401	chr16:81159855-81159856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149892616	chr16:81159876-81159877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570041372	chr16:81159887-81159888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546465678	chr16:81159903-81159904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561617782	chr16:81159907-81159908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16954709	chr16:81159929-81159930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548136331	chr16:81159939-81159940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565692976	chr16:81159977-81159978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537145672	chr16:81159986-81159987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192128711	chr16:81159987-81159988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570941675	chr16:81160011-81160012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6564827	chr16:81160066-81160067	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10659052	chr16:81160078-81160079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72458170	chr16:81160079-81160080	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7194228	chr16:81160080-81160081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71272430	chr16:81160096-81160097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553725660	chr16:81160105-81160106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147591220	chr16:81160120-81160121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575152146	chr16:81160128-81160129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535454281	chr16:81160142-81160143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142106903	chr16:81160148-81160149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184294315	chr16:81160150-81160151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557804530	chr16:81160153-81160154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145763497	chr16:81160157-81160158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147778697	chr16:81160182-81160183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79985202	chr16:81160223-81160224	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11642876	chr16:81160229-81160230	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143826500	chr16:81160257-81160258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558465750	chr16:81160330-81160331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12448819	chr16:81160337-81160338	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81141200-81169600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:81141400-81169600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:81141400-81169600	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
7	chr16:81154400-81169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:81155000-81161000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
10	chr16:81155600-81160200	Weak transcription	Ovary	ovary
11	chr16:81155600-81160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:81157600-81159600	Weak transcription	Adipose Nuclei	Adipose
13	chr16:81157600-81160200	Weak transcription	Placenta	Placenta
14	chr16:81157800-81160600	Weak transcription	HepG2	liver
15	chr16:81158200-81169800	Weak transcription	A549	lung
16	chr16:81159400-81162400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:81159600-81162200	Strong transcription	Adipose Nuclei	Adipose
18	chr16:81160200-81161400	Enhancers	NHEK	skin
19	chr16:81160200-81161600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:81160200-81161600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:81160200-81161600	Enhancers	Placenta	Placenta
22	chr16:81160200-81161600	Strong transcription	Ovary	ovary
23	chr16:81160200-81161800	Enhancers	HMEC	breast
24	chr16:81160400-81161200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:81160400-81161400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:81160400-81161600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:81160400-81161800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:81160400-81162200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:81160600-81162000	Strong transcription	HepG2	liver
30	chr16:81161000-81161400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:81161000-81162000	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:81161400-81161600	Bivalent Enhancer	NHEK	skin
33	chr16:81161600-81169800	Weak transcription	Ovary	ovary
34	chr16:81162000-81169600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr16:81162000-81169800	Weak transcription	HepG2	liver
36	chr16:81162200-81162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:81162200-81169600	Weak transcription	Adipose Nuclei	Adipose
38	chr16:81162400-81164000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:81162600-81162800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:81162800-81163800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:81163800-81164400	Enhancers	Placenta	Placenta
42	chr16:81163800-81164600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:81163800-81170600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:81164400-81167200	Weak transcription	Placenta	Placenta

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