Variant report

Variant	nsv1025476
Chromosome Location	chr8:5248337-5287056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 401 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10866988	chr8:5248337-5248338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559282163	chr8:5248340-5248341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534727805	chr8:5248349-5248350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577649955	chr8:5248380-5248381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369448967	chr8:5248401-5248402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554629622	chr8:5248410-5248411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562843588	chr8:5248412-5248413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574794017	chr8:5248424-5248425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541919824	chr8:5248425-5248426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11136867	chr8:5248533-5248534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527491858	chr8:5248543-5248544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191926887	chr8:5248556-5248557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115450692	chr8:5248582-5248583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62493676	chr8:5248590-5248591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549679379	chr8:5248595-5248596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555901428	chr8:5257204-5257205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183718098	chr8:5257207-5257208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188546300	chr8:5257272-5257273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28672883	chr8:5257281-5257282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77716155	chr8:5257300-5257301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545512323	chr8:5257304-5257305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564122019	chr8:5257313-5257314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111227580	chr8:5257322-5257323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193229744	chr8:5257343-5257344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530358010	chr8:5257363-5257364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545006328	chr8:5257371-5257372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201993151	chr8:5257372-5257373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369249032	chr8:5257373-5257374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73659847	chr8:5257374-5257375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111502801	chr8:5257382-5257383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113538488	chr8:5257390-5257391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200926317	chr8:5257392-5257393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80353158	chr8:5257394-5257395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566422394	chr8:5257396-5257397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77398285	chr8:5257404-5257405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552254965	chr8:5257419-5257420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549012052	chr8:5257434-5257435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184815559	chr8:5257439-5257440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12544677	chr8:5257446-5257447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567907056	chr8:5257449-5257450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73659848	chr8:5257458-5257459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148433492	chr8:5257460-5257461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188003064	chr8:5257465-5257466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73659849	chr8:5257470-5257471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568765346	chr8:5257482-5257483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191357158	chr8:5257486-5257487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183809848	chr8:5257489-5257490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11783191	chr8:5257511-5257512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189880622	chr8:5257523-5257524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114350142	chr8:5257524-5257525	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5247600-5248600	Enhancers	Fetal Brain Male	brain
2	chr8:5247800-5248400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:5248000-5248400	Enhancers	Fetal Brain Female	brain
4	chr8:5248000-5248400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:5257200-5258800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:5257800-5258000	Enhancers	Brain Germinal Matrix	brain
7	chr8:5258600-5258800	Enhancers	Brain Germinal Matrix	brain
8	chr8:5268000-5269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:5268000-5269600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:5268000-5269600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:5268200-5268400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:5268200-5268600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:5268200-5268800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:5268200-5269200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:5268200-5269600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:5268200-5270000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:5268400-5270600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:5268600-5269000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:5268600-5269400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:5268800-5269200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:5268800-5269200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:5268800-5271400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:5269000-5269600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:5269000-5269600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:5269200-5270000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:5269200-5270400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:5269600-5270800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:5270000-5270400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:5270400-5271200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:5270600-5270800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:5270600-5271200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:5270800-5271600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:5275000-5275200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:5275200-5275600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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