Variant report

Variant	esv2761439
Chromosome Location	chr8:78242325-78271372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:78243789..78245338-chr8:78247285..78249942,2	K562	blood:
2	chr8:78243789..78245338-chr8:78247285..78249942,2	K562	blood:
3	chr8:78268071..78271065-chr8:78271580..78274324,2	K562	blood:
4	chr8:78266597..78268495-chr8:78269805..78272021,2	MCF-7	breast:
5	chr8:78266597..78268495-chr8:78269805..78272021,2	MCF-7	breast:

Extended variants
information (count: 473 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369352261	chr8:78259214-78259215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562671908	chr8:78259234-78259235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529840335	chr8:78259265-78259266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185005729	chr8:78259290-78259291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561084340	chr8:78259310-78259311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375192607	chr8:78259421-78259422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528463737	chr8:78259440-78259441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551713406	chr8:78259443-78259444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6995362	chr8:78259464-78259465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571832391	chr8:78259470-78259471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539291839	chr8:78259521-78259522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550995740	chr8:78259529-78259530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534268034	chr8:78259572-78259573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569435114	chr8:78259632-78259633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117602750	chr8:78259640-78259641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369511937	chr8:78259660-78259661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571593822	chr8:78259680-78259681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573004791	chr8:78259685-78259686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533757743	chr8:78259715-78259716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73691667	chr8:78259722-78259723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556925487	chr8:78259733-78259734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375688114	chr8:78259771-78259772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149181463	chr8:78259801-78259802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72665635	chr8:78259811-78259812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562648161	chr8:78259846-78259847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6995879	chr8:78259847-78259848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs374712422	chr8:78259872-78259873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189567152	chr8:78259909-78259910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202029788	chr8:78259913-78259914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140239043	chr8:78259914-78259915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71571222	chr8:78259916-78259917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398047264	chr8:78259922-78259923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143082004	chr8:78259997-78259998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528596419	chr8:78260007-78260008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180988876	chr8:78260043-78260044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565236624	chr8:78260073-78260074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367653814	chr8:78260074-78260075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551247837	chr8:78260101-78260102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569618552	chr8:78260119-78260120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146695054	chr8:78260147-78260148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556665196	chr8:78260211-78260212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185106916	chr8:78260283-78260284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578154950	chr8:78260310-78260311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567088757	chr8:78260315-78260316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533853570	chr8:78260317-78260318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558369725	chr8:78260318-78260319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576729911	chr8:78260319-78260320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545382503	chr8:78260412-78260413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560491375	chr8:78260418-78260419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34921830	chr8:78260419-78260420	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
primary effusion lymphomas	17116491	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	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
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	17016436	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78259200-78261400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:78263000-78266400	Weak transcription	HUVEC	blood vessel
3	chr8:78266400-78267400	Enhancers	HUVEC	blood vessel
4	chr8:78267400-78267800	Flanking Active TSS	HUVEC	blood vessel
5	chr8:78267800-78268600	Active TSS	HUVEC	blood vessel
6	chr8:78268600-78270400	Flanking Active TSS	HUVEC	blood vessel
7	chr8:78269400-78270600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:78270400-78271200	Weak transcription	HUVEC	blood vessel
9	chr8:78271200-78271400	ZNF genes & repeats	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links