Variant report

Variant	esv3398516
Chromosome Location	chr8:112393126-112395124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577311115	chr8:112393142-112393143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567300893	chr8:112393195-112393196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546230374	chr8:112393240-112393241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563080931	chr8:112393428-112393429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181036950	chr8:112393458-112393459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185906181	chr8:112393474-112393475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544534575	chr8:112393480-112393481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562398071	chr8:112393481-112393482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57855446	chr8:112393508-112393509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75928886	chr8:112393509-112393510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146954811	chr8:112393515-112393516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4876341	chr8:112393517-112393518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142668341	chr8:112393532-112393533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547120776	chr8:112393615-112393616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75664436	chr8:112393623-112393624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557740228	chr8:112393626-112393627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532890225	chr8:112393637-112393638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57780848	chr8:112393638-112393639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188806249	chr8:112393646-112393647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182481124	chr8:112393674-112393675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555126922	chr8:112393729-112393730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187325202	chr8:112393767-112393768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59523937	chr8:112393816-112393817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553881420	chr8:112393857-112393858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577126538	chr8:112393885-112393886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371616201	chr8:112393922-112393923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4304353	chr8:112393935-112393936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59061829	chr8:112393946-112393947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531306816	chr8:112393957-112393958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397891408	chr8:112393962-112393963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59744092	chr8:112393963-112393964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397892265	chr8:112393964-112393965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556664790	chr8:112394021-112394022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139651976	chr8:112394106-112394107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542479160	chr8:112394108-112394109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35728633	chr8:112394116-112394117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182737243	chr8:112394136-112394137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562260186	chr8:112394138-112394139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568252732	chr8:112394197-112394198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185311338	chr8:112394210-112394211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369885133	chr8:112394227-112394228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116528898	chr8:112394246-112394247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190267720	chr8:112394251-112394252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75839396	chr8:112394305-112394306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28752193	chr8:112394310-112394311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182539949	chr8:112394325-112394326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150021396	chr8:112394334-112394335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548810940	chr8:112394339-112394340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565818973	chr8:112394351-112394352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534620112	chr8:112394418-112394419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112387800-112399600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:112392600-112393200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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