Variant report

Variant	esv13879
Chromosome Location	chr8:111939993-111944199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542738185	chr8:111939995-111939996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191950046	chr8:111940004-111940005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183009582	chr8:111940018-111940019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187458932	chr8:111940049-111940050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545321284	chr8:111940050-111940051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368191665	chr8:111940069-111940070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565179333	chr8:111940154-111940155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566081904	chr8:111940168-111940169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533322215	chr8:111940277-111940278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549919854	chr8:111940295-111940296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142651568	chr8:111940409-111940410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4143847	chr8:111940430-111940431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34339789	chr8:111940522-111940523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530777741	chr8:111940526-111940527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549490865	chr8:111940527-111940528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565923963	chr8:111940528-111940529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534933451	chr8:111940587-111940588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371283008	chr8:111940639-111940640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146012972	chr8:111940668-111940669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373912932	chr8:111940669-111940670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114986898	chr8:111940717-111940718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537023020	chr8:111940784-111940785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556661608	chr8:111940821-111940822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138631724	chr8:111940826-111940827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535959570	chr8:111940830-111940831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553081592	chr8:111940835-111940836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573029399	chr8:111940876-111940877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564239416	chr8:111940878-111940879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545230985	chr8:111940886-111940887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565140926	chr8:111940957-111940958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575628755	chr8:111940960-111940961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544521342	chr8:111941066-111941067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574667234	chr8:111941143-111941144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150221877	chr8:111941183-111941184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563517015	chr8:111941226-111941227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529328916	chr8:111941227-111941228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549204570	chr8:111941258-111941259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559422918	chr8:111941282-111941283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528628500	chr8:111941304-111941305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551582029	chr8:111941340-111941341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533002413	chr8:111941348-111941349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191432646	chr8:111941381-111941382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551300946	chr8:111941382-111941383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367974796	chr8:111941424-111941425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201657223	chr8:111941481-111941482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567149991	chr8:111941483-111941484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182552443	chr8:111941490-111941491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201394881	chr8:111941501-111941502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553061040	chr8:111941503-111941504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187108387	chr8:111941523-111941524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111929600-111942400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:111939800-111940800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:111940800-111941200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:111942400-111942600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:111943600-111944800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:111943800-111944200	Enhancers	HSMM	muscle
7	chr8:111943800-111944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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