Variant report

Variant	nsv1028841
Chromosome Location	chr8:5065445-5094981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 734 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575786602	chr8:5065461-5065462	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs79519741	chr8:5065475-5065476	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4369009	chr8:5065496-5065497	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527621259	chr8:5065500-5065501	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144636700	chr8:5065505-5065506	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570732783	chr8:5065533-5065534	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182524696	chr8:5065539-5065540	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549908133	chr8:5065559-5065560	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569292015	chr8:5065598-5065599	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75159968	chr8:5065604-5065605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62491239	chr8:5065614-5065615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548204710	chr8:5065623-5065624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566511501	chr8:5065624-5065625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80172349	chr8:5065630-5065631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558844124	chr8:5065633-5065634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145728195	chr8:5065636-5065637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200595574	chr8:5065658-5065659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569765992	chr8:5065663-5065664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62491240	chr8:5065671-5065672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556717392	chr8:5065694-5065695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79893355	chr8:5065695-5065696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114431013	chr8:5065696-5065697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373979492	chr8:5065697-5065698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202014082	chr8:5065711-5065712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs5889094	chr8:5065712-5065713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572094517	chr8:5065713-5065714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199974725	chr8:5065715-5065716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148383783	chr8:5065723-5065724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs398067524	chr8:5065724-5065725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559732505	chr8:5065747-5065748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545768978	chr8:5065752-5065753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372870726	chr8:5065753-5065754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143730985	chr8:5065756-5065757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531624393	chr8:5065757-5065758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549756040	chr8:5065765-5065766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561899139	chr8:5065783-5065784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75233216	chr8:5065793-5065794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151051648	chr8:5065795-5065796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4305920	chr8:5065800-5065801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186356738	chr8:5065844-5065845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536046591	chr8:5065868-5065869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552110411	chr8:5065869-5065870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191602956	chr8:5065875-5065876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183383092	chr8:5065920-5065921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75306102	chr8:5065932-5065933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188784887	chr8:5065945-5065946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79506144	chr8:5065958-5065959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536031063	chr8:5065964-5065965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35953106	chr8:5065992-5065993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572132728	chr8:5066033-5066034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Ductal carcinoma	22052326	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5062000-5066800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:5063400-5065600	Enhancers	Fetal Brain Female	brain
3	chr8:5063600-5065600	Enhancers	Brain Germinal Matrix	brain
4	chr8:5063800-5065600	Enhancers	Fetal Brain Male	brain
5	chr8:5064600-5065600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:5065000-5066200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:5065000-5070000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:5065200-5066000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:5065600-5066600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:5066000-5066200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:5066200-5066400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:5066200-5066600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:5066200-5070000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:5066400-5066800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:5069200-5069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:5069600-5070000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:5070000-5070200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:5070000-5070600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:5070000-5070600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:5070000-5071200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:5070200-5071000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:5070200-5071000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:5071000-5071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:5073400-5073800	Active TSS	Spleen	Spleen
25	chr8:5082000-5082200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:5082400-5083200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:5082800-5083000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:5085000-5085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:5087000-5089000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:5087600-5087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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