Variant report

Variant	nsv971245
Chromosome Location	chr8:85563772-85568170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:85564527..85566559-chr8:85570080..85572142,2	K562	blood:
2	chr8:85533470..85536280-chr8:85567297..85568905,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536255775	chr8:85564812-85564813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117383156	chr8:85564827-85564828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74404362	chr8:85564865-85564866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538919142	chr8:85564913-85564914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558756251	chr8:85565045-85565046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575422831	chr8:85565046-85565047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543948248	chr8:85565079-85565080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554371414	chr8:85565104-85565105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190703539	chr8:85565183-85565184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565126073	chr8:85565193-85565194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143913748	chr8:85565214-85565215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560063556	chr8:85565216-85565217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532476023	chr8:85565228-85565229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553679002	chr8:85565238-85565239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546102897	chr8:85565297-85565298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140399988	chr8:85565311-85565312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531533804	chr8:85565337-85565338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548321083	chr8:85565373-85565374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183274522	chr8:85565407-85565408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187255625	chr8:85565465-85565466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546701797	chr8:85565477-85565478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566507351	chr8:85565511-85565512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538986795	chr8:85565580-85565581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142141411	chr8:85565618-85565619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552446398	chr8:85565637-85565638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567002780	chr8:85565669-85565670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569161369	chr8:85565708-85565709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538064482	chr8:85565717-85565718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555107660	chr8:85565735-85565736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144350342	chr8:85565766-85565767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533862041	chr8:85565769-85565770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534014762	chr8:85565805-85565806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553835927	chr8:85565841-85565842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375422440	chr8:85565861-85565862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555767592	chr8:85565886-85565887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544680212	chr8:85565957-85565958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562776632	chr8:85565963-85565964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576367159	chr8:85565973-85565974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541675129	chr8:85565978-85565979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141158121	chr8:85565981-85565982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145972983	chr8:85566173-85566174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574050501	chr8:85566182-85566183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544923276	chr8:85566200-85566201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559786851	chr8:85566201-85566202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115147251	chr8:85566219-85566220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560159956	chr8:85566235-85566236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556854843	chr8:85566247-85566248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532373141	chr8:85566290-85566291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201959436	chr8:85566310-85566311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552112301	chr8:85566315-85566316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85564800-85565800	Enhancers	Colon Smooth Muscle	Colon
2	chr8:85565800-85566600	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:85566800-85567000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links