Variant report

Variant	nsv831217
Chromosome Location	chr8:5007449-5210093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:
2	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:
3	chr8:5020302..5022820-chr8:5022870..5025456,2	K562	blood:
4	chr8:5197871..5199494-chr8:5211295..5212821,2	K562	blood:
5	chr8:5020302..5022820-chr8:5022870..5025456,2	K562	blood:

Extended variants
information (count: 5601 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:5601 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560527547	chr8:5012627-5012628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151336054	chr8:5012654-5012655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4452806	chr8:5012657-5012658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140582163	chr8:5012672-5012673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187804998	chr8:5012681-5012682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191098959	chr8:5012695-5012696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532291061	chr8:5012712-5012713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149983909	chr8:5012722-5012723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73659743	chr8:5012737-5012738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537517809	chr8:5012746-5012747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555842784	chr8:5012747-5012748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377470551	chr8:5012757-5012758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546998022	chr8:5012762-5012763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535346133	chr8:5012772-5012773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562393577	chr8:5012798-5012799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553582668	chr8:5012800-5012801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183613359	chr8:5012805-5012806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145167362	chr8:5012806-5012807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557257749	chr8:5012818-5012819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7813282	chr8:5012837-5012838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542312192	chr8:5012867-5012868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560591459	chr8:5012873-5012874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7830151	chr8:5012892-5012893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189338812	chr8:5012898-5012899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181244556	chr8:5012913-5012914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7830168	chr8:5012918-5012919	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550776409	chr8:5012925-5012926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550281790	chr8:5012932-5012933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531065006	chr8:5012950-5012951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7830304	chr8:5012997-5012998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35118942	chr8:5013018-5013019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534987926	chr8:5013024-5013025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553406131	chr8:5013025-5013026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571943687	chr8:5013066-5013067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141306314	chr8:5013096-5013097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557580721	chr8:5013097-5013098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184883049	chr8:5013139-5013140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367877427	chr8:5013188-5013189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572666391	chr8:5013192-5013193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111679517	chr8:5015018-5015019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567887417	chr8:5015021-5015022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185694911	chr8:5015044-5015045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565670607	chr8:5015045-5015046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187786040	chr8:5015060-5015061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113756749	chr8:5015062-5015063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550932768	chr8:5015094-5015095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116577307	chr8:5015116-5015117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113610676	chr8:5015118-5015119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555126617	chr8:5015156-5015157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112933043	chr8:5015157-5015158	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5012600-5013200	Enhancers	Adipose Nuclei	Adipose
2	chr8:5015000-5015200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:5015200-5016200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:5015400-5015600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:5015600-5016200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:5016000-5017000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:5016000-5017600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:5016200-5016400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:5016200-5016600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:5016200-5017200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:5016200-5017200	Enhancers	Esophagus	oesophagus
12	chr8:5016200-5017400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:5016200-5017400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:5016200-5017400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:5016200-5017400	Enhancers	NHEK	skin
16	chr8:5016400-5016800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:5016400-5016800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:5016400-5016800	Enhancers	Brain Substantia Nigra	brain
19	chr8:5016400-5017000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:5016400-5017000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:5016400-5017200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:5016400-5017400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:5016400-5017400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:5016400-5021400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:5016600-5017000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:5016600-5017000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:5016600-5017200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:5016600-5017200	Active TSS	Brain Anterior Caudate	brain
29	chr8:5016800-5021800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:5017000-5020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:5017200-5021000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:5017400-5020800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:5017400-5022400	Weak transcription	NHEK	skin
34	chr8:5020800-5022800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr8:5020800-5023200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr8:5021000-5021200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:5021000-5022400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr8:5021400-5022200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:5021800-5022000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:5022000-5026600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:5022200-5023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:5022400-5023200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:5022400-5023200	Enhancers	NHEK	skin
44	chr8:5022600-5023000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:5022600-5024600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:5022800-5023200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:5022800-5023400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:5022800-5024200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:5022800-5024800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:5023000-5024400	Enhancers	HUES64 Cell Line	embryonic stem cell

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