Variant report

Variant	nsv1030763
Chromosome Location	chr8:4328216-4350040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:
2	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
3	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
4	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:

Extended variants
information (count: 406 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:406 , 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	rs1154076	chr8:4328216-4328217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573083769	chr8:4328222-4328223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540518313	chr8:4328238-4328239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12547280	chr8:4328250-4328251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs371237832	chr8:4328283-4328284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190016517	chr8:4328286-4328287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562592026	chr8:4328295-4328296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59761668	chr8:4328310-4328311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181199768	chr8:4328334-4328335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76570695	chr8:4328340-4328341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77952366	chr8:4328342-4328343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76708018	chr8:4328343-4328344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185091902	chr8:4328346-4328347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189559220	chr8:4328352-4328353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183337141	chr8:4328353-4328354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187266578	chr8:4328354-4328355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538744340	chr8:4328370-4328371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558978624	chr8:4328374-4328375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376173533	chr8:4328378-4328379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531811832	chr8:4328380-4328381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549931374	chr8:4328384-4328385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565760375	chr8:4328395-4328396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116736892	chr8:4328396-4328397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12547327	chr8:4328406-4328407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553925443	chr8:4328410-4328411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76207683	chr8:4328412-4328413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376457213	chr8:4328413-4328414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534610016	chr8:4328448-4328449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191888342	chr8:4328451-4328452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532645423	chr8:4328456-4328457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552433600	chr8:4328469-4328470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183800224	chr8:4328474-4328475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558815963	chr8:4328489-4328490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566067902	chr8:4328536-4328537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577033562	chr8:4328542-4328543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544434312	chr8:4328562-4328563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556377311	chr8:4328566-4328567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144562990	chr8:4328582-4328583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58593589	chr8:4328617-4328618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554854281	chr8:4328656-4328657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113788106	chr8:4328668-4328669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191927375	chr8:4328680-4328681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370255779	chr8:4328681-4328682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535004458	chr8:4328685-4328686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61555144	chr8:4328705-4328706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554559053	chr8:4328711-4328712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77084144	chr8:4328718-4328719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531870903	chr8:4328736-4328737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375684635	chr8:4328745-4328746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200678551	chr8:4328778-4328779	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
Breast cancer	21364760	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
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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4325800-4329000	Weak transcription	Gastric	stomach
2	chr8:4328200-4330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:4329000-4329400	ZNF genes & repeats	Gastric	stomach
4	chr8:4330800-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:4334400-4335000	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:4335200-4335800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:4335400-4335800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:4338400-4339000	Enhancers	Fetal Heart	heart
9	chr8:4347000-4347400	Enhancers	Gastric	stomach

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