Variant report

Variant	esv3398543
Chromosome Location	chr8:119844521-119847619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568772607	chr8:119844524-119844525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146775908	chr8:119844527-119844528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77260378	chr8:119844545-119844546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77762040	chr8:119844560-119844561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568919138	chr8:119844661-119844662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539187338	chr8:119844733-119844734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549539098	chr8:119844759-119844760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572472858	chr8:119844766-119844767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533554177	chr8:119844778-119844779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555198336	chr8:119844827-119844828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563286166	chr8:119844847-119844848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544376457	chr8:119844865-119844866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562577991	chr8:119844901-119844902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568227879	chr8:119844904-119844905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59708383	chr8:119845029-119845030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564576197	chr8:119845087-119845088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551661488	chr8:119845121-119845122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528454836	chr8:119845170-119845171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547057292	chr8:119845172-119845173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3134080	chr8:119845200-119845201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35177429	chr8:119845213-119845214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78334330	chr8:119845264-119845265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551138360	chr8:119845296-119845297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114054512	chr8:119845306-119845307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540043843	chr8:119845321-119845322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146356581	chr8:119845339-119845340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566236927	chr8:119845381-119845382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533532984	chr8:119845545-119845546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79919823	chr8:119845549-119845550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188796392	chr8:119845562-119845563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58035109	chr8:119845564-119845565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556445658	chr8:119845687-119845688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139700944	chr8:119845700-119845701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545199075	chr8:119845719-119845720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200533845	chr8:119845768-119845769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369374171	chr8:119845769-119845770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201602001	chr8:119845770-119845771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546925401	chr8:119845772-119845773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558274595	chr8:119845787-119845788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59898088	chr8:119845788-119845789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573421788	chr8:119845801-119845802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530707553	chr8:119845827-119845828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7823510	chr8:119845849-119845850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28880123	chr8:119845865-119845866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3133587	chr8:119845892-119845893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548876194	chr8:119845920-119845921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190884663	chr8:119846049-119846050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529302183	chr8:119846052-119846053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4876862	chr8:119846102-119846103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140367801	chr8:119846161-119846162	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
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
Oral squamous cell carcinoma	21853135	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119837800-119848200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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