Variant report

Variant	esv3369737
Chromosome Location	chr8:90468225-90468445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546562544	chr8:90468245-90468246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558452876	chr8:90468247-90468248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7463625	chr8:90468262-90468263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7463626	chr8:90468264-90468265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529083252	chr8:90468265-90468266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59119412	chr8:90468269-90468270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58468341	chr8:90468270-90468271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370564940	chr8:90468295-90468296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372587772	chr8:90468296-90468297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10627479	chr8:90468308-90468309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370273740	chr8:90468309-90468310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559179802	chr8:90468340-90468341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376192644	chr8:90468365-90468366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377747821	chr8:90468368-90468369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371203703	chr8:90468369-90468370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377595891	chr8:90468372-90468373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370574336	chr8:90468377-90468378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375825963	chr8:90468382-90468383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375147420	chr8:90468388-90468389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368326528	chr8:90468422-90468423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370652330	chr8:90468423-90468424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368450878	chr8:90468425-90468426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375676403	chr8:90468426-90468427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533086347	chr8:90468431-90468432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371885615	chr8:90468433-90468434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5007505	chr8:90468434-90468435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199878574	chr8:90468437-90468438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs33945400	chr8:90468438-90468439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7835586	chr8:90468440-90468441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371710066	chr8:90468441-90468442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374568469	chr8:90468444-90468445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90458400-90469800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:90458400-90482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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