Variant report

Variant	esv3438340
Chromosome Location	chr8:90467086-90469084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558948807	chr8:90467098-90467099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574369069	chr8:90467126-90467127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542169974	chr8:90467175-90467176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562959182	chr8:90467191-90467192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150197392	chr8:90467249-90467250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552772713	chr8:90467258-90467259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114988118	chr8:90467260-90467261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77983895	chr8:90467267-90467268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538259083	chr8:90467281-90467282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113410959	chr8:90467325-90467326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535800189	chr8:90467326-90467327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193207377	chr8:90467339-90467340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185595798	chr8:90467390-90467391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536868187	chr8:90467392-90467393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558361143	chr8:90467399-90467400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187742422	chr8:90467406-90467407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534455605	chr8:90467447-90467448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142673329	chr8:90467448-90467449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552638890	chr8:90467459-90467460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192401402	chr8:90467463-90467464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541783950	chr8:90467469-90467470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563844736	chr8:90467490-90467491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184076620	chr8:90467521-90467522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546497328	chr8:90467568-90467569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564717693	chr8:90467573-90467574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553172749	chr8:90467590-90467591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60037212	chr8:90467609-90467610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547126271	chr8:90467622-90467623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201833468	chr8:90467624-90467625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10546040	chr8:90467627-90467628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35830599	chr8:90467628-90467629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201360487	chr8:90467630-90467631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66762546	chr8:90467638-90467639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398068015	chr8:90467639-90467640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7846486	chr8:90467677-90467678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569142442	chr8:90467699-90467700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188809975	chr8:90467711-90467712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71915876	chr8:90467777-90467778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557282777	chr8:90467779-90467780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398112740	chr8:90467780-90467781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72440531	chr8:90467783-90467784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10524770	chr8:90467788-90467789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35275767	chr8:90467794-90467795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552047585	chr8:90467840-90467841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192118603	chr8:90467866-90467867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184704662	chr8:90467980-90467981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575553541	chr8:90468098-90468099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200063447	chr8:90468099-90468100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552673692	chr8:90468101-90468102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543714127	chr8:90468133-90468134	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:3 , 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
3	chr8:90468600-90469200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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