Variant report

Variant	nsv1055502
Chromosome Location	chr16:75985061-76039759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2866 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2866 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs953348	chr16:75985061-75985062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544269692	chr16:75985152-75985153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561327760	chr16:75985159-75985160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4583263	chr16:75985214-75985215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1391411	chr16:75985217-75985218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs1391412	chr16:75985226-75985227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560408786	chr16:75985272-75985273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1391413	chr16:75985285-75985286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115144970	chr16:75985294-75985295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568876876	chr16:75985317-75985318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141608888	chr16:75985323-75985324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555145014	chr16:75985353-75985354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192977449	chr16:75985369-75985370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5817967	chr16:75985420-75985421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3049657	chr16:75985421-75985422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397836813	chr16:75985426-75985427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398029950	chr16:75985430-75985431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376837155	chr16:75985448-75985449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567356286	chr16:75985450-75985451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147063794	chr16:75985472-75985473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11862738	chr16:75985483-75985484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565742724	chr16:75985516-75985517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368326962	chr16:75985526-75985527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115870926	chr16:75985532-75985533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7203680	chr16:75985547-75985548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566001155	chr16:75985557-75985558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374534873	chr16:75985558-75985559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187411367	chr16:75985562-75985563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537553243	chr16:75985576-75985577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192165745	chr16:75985596-75985597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11863051	chr16:75985613-75985614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574982064	chr16:75985630-75985631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372332295	chr16:75985659-75985660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375218709	chr16:75985725-75985726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560445572	chr16:75985729-75985730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150689029	chr16:75985745-75985746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546059648	chr16:75985747-75985748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562740316	chr16:75985760-75985761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531687485	chr16:75985817-75985818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548433115	chr16:75985821-75985822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369096549	chr16:75985850-75985851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529884278	chr16:75985871-75985872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144414752	chr16:75985900-75985901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533076704	chr16:75985963-75985964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138961854	chr16:75985964-75985965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372873024	chr16:75985987-75985988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552459534	chr16:75985998-75985999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568800371	chr16:75986080-75986081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537846059	chr16:75986083-75986084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117298693	chr16:75986101-75986102	Weak transcription Enhancers	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75973200-75991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:75986000-75986200	Enhancers	Brain Cingulate Gyrus	brain
3	chr16:75991600-75992000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:75991600-75992400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:75991800-75992400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:75992400-75999600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:75998400-76001400	Enhancers	HMEC	breast
8	chr16:75999400-76000600	Enhancers	Brain Substantia Nigra	brain
9	chr16:75999400-76001000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:75999600-76000000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr16:75999600-76000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:75999600-76000400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:75999600-76000400	Enhancers	Brain Angular Gyrus	brain
14	chr16:75999600-76000400	Enhancers	Brain Cingulate Gyrus	brain
15	chr16:75999600-76001200	Enhancers	Brain Anterior Caudate	brain
16	chr16:75999600-76001400	Enhancers	Brain Hippocampus Middle	brain
17	chr16:75999800-76000200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr16:76000000-76000800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:76000400-76007800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:76000800-76001000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr16:76001000-76003400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:76006000-76006800	Enhancers	Brain Germinal Matrix	brain
23	chr16:76006800-76009200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr16:76007400-76007600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:76007800-76008000	Enhancers	Brain Angular Gyrus	brain
26	chr16:76008000-76011200	Weak transcription	Brain Angular Gyrus	brain
27	chr16:76009200-76009400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr16:76009200-76009600	Weak transcription	Brain Substantia Nigra	brain
29	chr16:76009200-76009800	Enhancers	Brain Anterior Caudate	brain
30	chr16:76009200-76011800	Enhancers	Brain Hippocampus Middle	brain
31	chr16:76009400-76011000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:76009600-76009800	Enhancers	Brain Cingulate Gyrus	brain
33	chr16:76009600-76010000	Enhancers	Brain Substantia Nigra	brain
34	chr16:76009800-76010800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:76009800-76017200	Weak transcription	Brain Anterior Caudate	brain
36	chr16:76010000-76011000	Weak transcription	Brain Substantia Nigra	brain
37	chr16:76010400-76011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:76010800-76012000	Enhancers	Brain Cingulate Gyrus	brain
39	chr16:76011000-76011800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr16:76011000-76012000	Enhancers	Brain Substantia Nigra	brain
41	chr16:76011200-76011800	Enhancers	Brain Angular Gyrus	brain
42	chr16:76011800-76014000	Weak transcription	Brain Angular Gyrus	brain
43	chr16:76012000-76017000	Weak transcription	Brain Substantia Nigra	brain
44	chr16:76014600-76014800	Enhancers	Brain Germinal Matrix	brain
45	chr16:76014800-76015600	Weak transcription	Brain Germinal Matrix	brain
46	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:76015400-76017400	Weak transcription	Brain Angular Gyrus	brain
48	chr16:76015600-76018800	Enhancers	Brain Germinal Matrix	brain
49	chr16:76016200-76018400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:76016600-76016800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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