Variant report

Variant	esv12257
Chromosome Location	chr8:104906431-104912684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 239 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529134513	chr8:104906476-104906477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371523501	chr8:104906501-104906502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113416499	chr8:104906515-104906516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192055929	chr8:104906549-104906550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529113013	chr8:104906577-104906578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369807795	chr8:104906586-104906587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527636061	chr8:104906587-104906588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115087153	chr8:104906607-104906608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552295892	chr8:104906617-104906618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183605789	chr8:104906635-104906636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74350564	chr8:104906664-104906665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556648213	chr8:104906666-104906667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566234424	chr8:104906681-104906682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187669739	chr8:104906736-104906737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568301553	chr8:104906823-104906824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1496844	chr8:104906832-104906833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535670432	chr8:104906877-104906878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549043039	chr8:104906885-104906886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568834813	chr8:104906890-104906891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554018288	chr8:104906891-104906892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73293855	chr8:104906946-104906947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11986436	chr8:104907025-104907026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537564745	chr8:104907068-104907069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184207196	chr8:104907113-104907114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557291442	chr8:104907127-104907128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570914820	chr8:104907129-104907130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10505052	chr8:104907133-104907134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs543136202	chr8:104907140-104907141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186659655	chr8:104907154-104907155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192753897	chr8:104907179-104907180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11990275	chr8:104907226-104907227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139719641	chr8:104907250-104907251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377604975	chr8:104907268-104907269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184450568	chr8:104907278-104907279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551698450	chr8:104907317-104907318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373332338	chr8:104907319-104907320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570737599	chr8:104907364-104907365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571241543	chr8:104907401-104907402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199624673	chr8:104907404-104907405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11419176	chr8:104907415-104907416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145303016	chr8:104907450-104907451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574155374	chr8:104907467-104907468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568237772	chr8:104907481-104907482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535607543	chr8:104907492-104907493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370570282	chr8:104907582-104907583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553955618	chr8:104907630-104907631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190563532	chr8:104907635-104907636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150922964	chr8:104907649-104907650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182289889	chr8:104907662-104907663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140733975	chr8:104907685-104907686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104897200-104914200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:104898200-104919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:104899400-104933400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:104906400-104907000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:104907000-104907200	Enhancers	Fetal Intestine Small	intestine

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