Variant report

Variant	nsv972528
Chromosome Location	chr8:60221258-60225226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572225176	chr8:60221273-60221274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540894741	chr8:60221373-60221374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374282310	chr8:60221398-60221399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147803898	chr8:60221443-60221444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555775619	chr8:60221500-60221501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182192156	chr8:60221515-60221516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541372060	chr8:60221538-60221539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564047233	chr8:60221549-60221550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564299975	chr8:60221573-60221574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577479829	chr8:60221579-60221580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187624621	chr8:60221600-60221601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201227435	chr8:60221673-60221674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189096898	chr8:60221699-60221700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145572204	chr8:60221720-60221721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548793958	chr8:60221785-60221786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141407552	chr8:60221839-60221840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528077118	chr8:60221877-60221878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181087657	chr8:60221885-60221886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79030523	chr8:60221945-60221946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371457582	chr8:60222057-60222058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540118048	chr8:60222094-60222095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570740166	chr8:60222115-60222116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145310183	chr8:60222116-60222117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570255967	chr8:60222190-60222191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80348889	chr8:60222208-60222209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185658184	chr8:60222248-60222249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572465484	chr8:60222276-60222277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534721929	chr8:60222277-60222278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562544680	chr8:60222317-60222318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60567115	chr8:60222369-60222370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543295124	chr8:60222402-60222403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147557691	chr8:60222438-60222439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573750656	chr8:60222454-60222455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578154361	chr8:60222493-60222494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371726071	chr8:60222518-60222519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142001301	chr8:60222587-60222588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190270146	chr8:60222591-60222592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376716028	chr8:60222602-60222603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143077853	chr8:60222657-60222658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545051988	chr8:60222677-60222678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371658438	chr8:60222714-60222715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367972974	chr8:60222719-60222720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375120962	chr8:60222830-60222831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148207544	chr8:60222860-60222861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550494521	chr8:60222904-60222905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140205418	chr8:60222924-60222925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150447091	chr8:60222930-60222931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549517847	chr8:60222960-60222961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563758972	chr8:60223010-60223011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566060979	chr8:60223017-60223018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60218400-60221800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:60218800-60223000	Enhancers	Dnd41	blood
3	chr8:60219400-60222600	Weak transcription	Brain Germinal Matrix	brain
4	chr8:60219600-60221600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:60220000-60226800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:60220800-60221800	Weak transcription	Fetal Brain Male	brain
7	chr8:60220800-60224400	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:60221000-60221600	Weak transcription	Fetal Stomach	stomach
9	chr8:60221000-60222000	Weak transcription	Fetal Lung	lung
10	chr8:60221000-60227400	Weak transcription	Psoas Muscle	Psoas
11	chr8:60221200-60223200	Enhancers	Fetal Brain Female	brain
12	chr8:60221600-60221800	Enhancers	Fetal Stomach	stomach
13	chr8:60221600-60222000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:60221600-60222600	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:60221800-60222000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:60221800-60225000	Enhancers	Fetal Brain Male	brain
17	chr8:60221800-60229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:60222000-60222400	Enhancers	Fetal Lung	lung
19	chr8:60222200-60222600	Enhancers	Pancreas	Pancrea
20	chr8:60222600-60223000	Enhancers	Brain Germinal Matrix	brain
21	chr8:60222600-60226800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:60222600-60237200	Weak transcription	Pancreas	Pancrea
23	chr8:60222800-60223400	Enhancers	GM12878-XiMat	blood
24	chr8:60223200-60225200	Weak transcription	Fetal Brain Female	brain
25	chr8:60224400-60225600	Enhancers	Colon Smooth Muscle	Colon
26	chr8:60225200-60225400	Enhancers	Fetal Brain Female	brain

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