Variant report

Variant	esv3421326
Chromosome Location	chr8:92186265-92190078
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	chr8:92185616..92187449-chr8:92210169..92211682,2	K562	blood:
2	chr8:92154407..92157062-chr8:92186719..92188314,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544471361	chr8:92186286-92186287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184884800	chr8:92186323-92186324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576767259	chr8:92186367-92186368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377158850	chr8:92186368-92186369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572436801	chr8:92186400-92186401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552540874	chr8:92186406-92186407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200463347	chr8:92186435-92186436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562743927	chr8:92186472-92186473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35029746	chr8:92186507-92186508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190283594	chr8:92186526-92186527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116736997	chr8:92186582-92186583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546257183	chr8:92187830-92187831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567741545	chr8:92187908-92187909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117970417	chr8:92187936-92187937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556982407	chr8:92187937-92187938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151030614	chr8:92187946-92187947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539347450	chr8:92187947-92187948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533428628	chr8:92188000-92188001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557960616	chr8:92188039-92188040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11337903	chr8:92188044-92188045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75641523	chr8:92188055-92188056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80310125	chr8:92188056-92188057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7015018	chr8:92188062-92188063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536556003	chr8:92188094-92188095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527800521	chr8:92188138-92188139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7002093	chr8:92188186-92188187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183788603	chr8:92188195-92188196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372939649	chr8:92188224-92188225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542251089	chr8:92188230-92188231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186787557	chr8:92188278-92188279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372727213	chr8:92188356-92188357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376693322	chr8:92188358-92188359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202005655	chr8:92188360-92188361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61514061	chr8:92188362-92188363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57846579	chr8:92188363-92188364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201492902	chr8:92188364-92188365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202080806	chr8:92188366-92188367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13248681	chr8:92188375-92188376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13257254	chr8:92188376-92188377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531264721	chr8:92188392-92188393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191917052	chr8:92188427-92188428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11991823	chr8:92188440-92188441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11988140	chr8:92188454-92188455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184684922	chr8:92188470-92188471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567774392	chr8:92188577-92188578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535188895	chr8:92188588-92188589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375497952	chr8:92188596-92188597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189732047	chr8:92188603-92188604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139188099	chr8:92188614-92188615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558664640	chr8:92188626-92188627	Weak transcription	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
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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92185200-92186600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:92187800-92192000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:92188000-92188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:92188400-92192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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