Variant report

Variant	esv3423289
Chromosome Location	chr8:118108796-118111544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35689578	chr8:118108857-118108858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72318145	chr8:118108858-118108859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575000569	chr8:118108874-118108875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561452819	chr8:118108922-118108923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186131969	chr8:118108957-118108958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368169558	chr8:118108972-118108973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117199776	chr8:118108977-118108978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147915997	chr8:118109152-118109153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189076598	chr8:118109153-118109154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116355208	chr8:118109205-118109206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141638099	chr8:118109219-118109220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551203969	chr8:118109302-118109303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7826750	chr8:118109342-118109343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143783465	chr8:118109363-118109364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181655054	chr8:118109377-118109378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186754273	chr8:118109443-118109444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534590072	chr8:118109528-118109529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571893109	chr8:118109555-118109556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553202403	chr8:118109600-118109601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370195071	chr8:118109655-118109656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74676718	chr8:118109657-118109658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200087769	chr8:118109659-118109660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556599744	chr8:118109661-118109662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7827082	chr8:118109667-118109668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113561076	chr8:118109737-118109738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200986520	chr8:118109755-118109756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556085949	chr8:118109759-118109760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191147808	chr8:118109767-118109768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375181079	chr8:118109770-118109771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373649228	chr8:118109800-118109801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368522089	chr8:118109803-118109804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71530858	chr8:118109836-118109837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535227960	chr8:118109866-118109867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111215995	chr8:118109895-118109896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574417947	chr8:118109933-118109934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370980594	chr8:118109934-118109935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534991938	chr8:118109952-118109953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183073883	chr8:118109963-118109964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556786553	chr8:118109982-118109983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574987855	chr8:118109983-118109984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553422391	chr8:118109986-118109987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185399482	chr8:118109996-118109997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5022340	chr8:118110032-118110033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183518803	chr8:118110068-118110069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578006995	chr8:118110079-118110080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71303469	chr8:118110126-118110127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545489207	chr8:118110127-118110128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563680063	chr8:118110128-118110129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375357136	chr8:118110135-118110136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557447628	chr8:118110138-118110139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118107600-118108800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr8:118108800-118118400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:118111400-118111600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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