Variant report

Variant	nsv827751
Chromosome Location	chr16:76002055-76018867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 918 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183141078	chr16:76002128-76002129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376292072	chr16:76002129-76002130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535620833	chr16:76002139-76002140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11863538	chr16:76002141-76002142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568193884	chr16:76002142-76002143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534004856	chr16:76002144-76002145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553519841	chr16:76002146-76002147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141242525	chr16:76002148-76002149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539311150	chr16:76002150-76002151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555782872	chr16:76002232-76002233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11863565	chr16:76002236-76002237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs75031100	chr16:76002237-76002238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142440297	chr16:76002238-76002239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572011367	chr16:76002239-76002240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541668061	chr16:76002246-76002247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560828244	chr16:76002253-76002254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533708921	chr16:76002260-76002261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151335658	chr16:76002288-76002289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563559927	chr16:76002326-76002327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564539705	chr16:76002332-76002333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371895877	chr16:76002335-76002336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187844121	chr16:76002336-76002337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549071614	chr16:76002343-76002344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140541285	chr16:76002371-76002372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192415872	chr16:76002402-76002403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547202047	chr16:76002445-76002446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570307415	chr16:76002456-76002457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539397671	chr16:76002457-76002458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556020091	chr16:76002458-76002459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543479584	chr16:76002459-76002460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563356857	chr16:76002566-76002567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185762095	chr16:76002573-76002574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377502607	chr16:76002585-76002586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113403121	chr16:76002620-76002621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187431439	chr16:76002625-76002626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555035083	chr16:76002636-76002637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572111256	chr16:76002657-76002658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548512143	chr16:76002664-76002665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373748481	chr16:76002673-76002674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541117007	chr16:76002691-76002692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150468745	chr16:76002714-76002715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202206227	chr16:76002729-76002730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578200699	chr16:76002739-76002740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115815147	chr16:76002749-76002750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564022454	chr16:76002750-76002751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138717610	chr16:76002754-76002755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114412669	chr16:76002759-76002760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76792463	chr16:76002761-76002762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370824190	chr16:76002763-76002764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528606259	chr16:76002801-76002802	Weak transcription	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76000400-76007800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:76001000-76003400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:76006000-76006800	Enhancers	Brain Germinal Matrix	brain
4	chr16:76006800-76009200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:76007400-76007600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:76007800-76008000	Enhancers	Brain Angular Gyrus	brain
7	chr16:76008000-76011200	Weak transcription	Brain Angular Gyrus	brain
8	chr16:76009200-76009400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr16:76009200-76009600	Weak transcription	Brain Substantia Nigra	brain
10	chr16:76009200-76009800	Enhancers	Brain Anterior Caudate	brain
11	chr16:76009200-76011800	Enhancers	Brain Hippocampus Middle	brain
12	chr16:76009400-76011000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr16:76009600-76009800	Enhancers	Brain Cingulate Gyrus	brain
14	chr16:76009600-76010000	Enhancers	Brain Substantia Nigra	brain
15	chr16:76009800-76010800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:76009800-76017200	Weak transcription	Brain Anterior Caudate	brain
17	chr16:76010000-76011000	Weak transcription	Brain Substantia Nigra	brain
18	chr16:76010400-76011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:76010800-76012000	Enhancers	Brain Cingulate Gyrus	brain
20	chr16:76011000-76011800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr16:76011000-76012000	Enhancers	Brain Substantia Nigra	brain
22	chr16:76011200-76011800	Enhancers	Brain Angular Gyrus	brain
23	chr16:76011800-76014000	Weak transcription	Brain Angular Gyrus	brain
24	chr16:76012000-76017000	Weak transcription	Brain Substantia Nigra	brain
25	chr16:76014600-76014800	Enhancers	Brain Germinal Matrix	brain
26	chr16:76014800-76015600	Weak transcription	Brain Germinal Matrix	brain
27	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:76015400-76017400	Weak transcription	Brain Angular Gyrus	brain
29	chr16:76015600-76018800	Enhancers	Brain Germinal Matrix	brain
30	chr16:76016200-76018400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:76016600-76016800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr16:76016600-76017600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:76016800-76017400	Enhancers	Fetal Brain Female	brain
34	chr16:76016800-76018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:76016800-76018200	Enhancers	Brain Hippocampus Middle	brain
36	chr16:76017000-76017400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr16:76017000-76018000	Enhancers	Brain Substantia Nigra	brain
38	chr16:76017200-76017400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr16:76017200-76018000	Enhancers	Brain Anterior Caudate	brain
40	chr16:76017200-76018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:76017200-76018400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr16:76017200-76018400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr16:76017400-76018000	Enhancers	Brain Angular Gyrus	brain
44	chr16:76017400-76018400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr16:76017400-76018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr16:76017600-76017800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr16:76017600-76018000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:76017600-76018200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr16:76017800-76018000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr16:76017800-76018200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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