Variant report

Variant	nsv1031402
Chromosome Location	chr8:4827087-4842934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4826578..4828177-chr8:4829806..4832230,2	K562	blood:
2	chr8:4841962..4844749-chr8:4848427..4850275,2	K562	blood:
3	chr8:4826578..4828177-chr8:4829806..4832230,2	K562	blood:

Extended variants
information (count: 929 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:929 , 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	rs75725207	chr8:4831400-4831401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566184555	chr8:4831403-4831404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76554124	chr8:4831418-4831419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569372915	chr8:4831454-4831455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536749158	chr8:4831504-4831505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371166890	chr8:4831511-4831512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559690094	chr8:4831558-4831559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184082302	chr8:4831569-4831570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534209712	chr8:4831570-4831571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144807877	chr8:4831591-4831592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61110616	chr8:4831604-4831605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574737238	chr8:4831622-4831623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574518051	chr8:4831629-4831630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538429605	chr8:4831663-4831664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556482152	chr8:4831664-4831665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34251692	chr8:4831684-4831685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4875424	chr8:4831685-4831686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559691294	chr8:4831688-4831689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571685856	chr8:4831689-4831690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34867801	chr8:4831705-4831706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113380050	chr8:4831706-4831707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59446907	chr8:4831713-4831714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397948922	chr8:4831719-4831720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188628559	chr8:4831739-4831740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192238019	chr8:4831755-4831756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142354560	chr8:4831778-4831779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549903708	chr8:4831779-4831780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62489452	chr8:4831810-4831811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142248329	chr8:4831814-4831815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182988409	chr8:4831816-4831817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571702029	chr8:4831818-4831819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187329149	chr8:4831823-4831824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534188260	chr8:4831824-4831825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564727530	chr8:4831827-4831828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114072898	chr8:4831828-4831829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571077658	chr8:4831834-4831835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367883068	chr8:4831864-4831865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538164464	chr8:4831868-4831869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541956512	chr8:4831876-4831877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191777495	chr8:4831888-4831889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568338767	chr8:4831891-4831892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535680933	chr8:4831897-4831898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371754077	chr8:4831921-4831922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553435920	chr8:4831941-4831942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571852889	chr8:4831957-4831958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151276941	chr8:4831958-4831959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75464400	chr8:4831962-4831963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572193012	chr8:4831981-4831982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576248795	chr8:4832000-4832001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76956314	chr8:4832009-4832010	Weak transcription	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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4831400-4838800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4832000-4848200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:4835000-4835200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:4835200-4847200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:4835400-4835600	Enhancers	Brain Angular Gyrus	brain
6	chr8:4835600-4848200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:4838800-4840200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:4839600-4840000	Enhancers	Fetal Heart	heart
9	chr8:4840000-4845200	Weak transcription	Fetal Heart	heart
10	chr8:4840200-4847600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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