Variant report

Variant	esv3350975
Chromosome Location	chr8:119642196-119644369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558699641	chr8:119642235-119642236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373535128	chr8:119642281-119642282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12176624	chr8:119642308-119642309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549274114	chr8:119642339-119642340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538366822	chr8:119642371-119642372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541023308	chr8:119642372-119642373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552739528	chr8:119642384-119642385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574666070	chr8:119642455-119642456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558198702	chr8:119642466-119642467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115030464	chr8:119642478-119642479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79882359	chr8:119642526-119642527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563121424	chr8:119642552-119642553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530640443	chr8:119642570-119642571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145801016	chr8:119642571-119642572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117726721	chr8:119642605-119642606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73321314	chr8:119642617-119642618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138445220	chr8:119642640-119642641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574001473	chr8:119642663-119642664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73321315	chr8:119642685-119642686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs72678186	chr8:119642846-119642847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs3133404	chr8:119642885-119642886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs570227304	chr8:119642911-119642912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3107482	chr8:119642918-119642919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535830848	chr8:119642934-119642935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374872879	chr8:119642935-119642936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556054584	chr8:119642936-119642937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367873293	chr8:119642987-119642988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112159252	chr8:119643025-119643026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10111896	chr8:119643029-119643030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570558868	chr8:119643061-119643062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534460287	chr8:119643082-119643083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199750570	chr8:119643116-119643117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552918209	chr8:119643155-119643156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189620542	chr8:119643218-119643219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149315098	chr8:119643227-119643228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367845466	chr8:119643237-119643238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180857338	chr8:119643242-119643243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186107727	chr8:119643258-119643259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375470966	chr8:119643301-119643302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563056476	chr8:119643303-119643304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7813882	chr8:119643307-119643308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545598720	chr8:119643313-119643314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563988284	chr8:119643344-119643345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577261016	chr8:119643369-119643370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564236486	chr8:119643370-119643371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559669407	chr8:119643378-119643379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530064016	chr8:119643416-119643417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144702482	chr8:119643423-119643424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548854562	chr8:119643425-119643426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67324271	chr8:119643427-119643428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:143)

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
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	17603634	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
Cancer	20164920	CNVD
Breast cancer	20932292	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119635000-119650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:119635200-119645200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:119641400-119646000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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