Variant report

Variant	esv3442529
Chromosome Location	chr8:122212856-122213336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201841558	chr8:122212862-122212863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189639785	chr8:122212868-122212869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7838368	chr8:122212869-122212870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527469349	chr8:122212870-122212871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568767325	chr8:122212872-122212873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537914903	chr8:122212981-122212982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533540943	chr8:122212987-122212988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141142421	chr8:122212989-122212990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538166263	chr8:122213000-122213001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533955892	chr8:122213005-122213006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150165782	chr8:122213012-122213013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553732152	chr8:122213015-122213016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61716797	chr8:122213017-122213018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573870795	chr8:122213019-122213020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113762790	chr8:122213023-122213024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568101104	chr8:122213032-122213033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536165611	chr8:122213046-122213047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556474334	chr8:122213047-122213048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149370326	chr8:122213048-122213049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146021523	chr8:122213052-122213053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61584553	chr8:122213053-122213054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10090901	chr8:122213065-122213066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10104163	chr8:122213067-122213068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545065070	chr8:122213069-122213070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200835391	chr8:122213071-122213072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200176142	chr8:122213074-122213075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60527268	chr8:122213078-122213079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541607487	chr8:122213080-122213081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561360221	chr8:122213084-122213085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530375887	chr8:122213085-122213086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550231205	chr8:122213086-122213087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562472917	chr8:122213087-122213088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368701663	chr8:122213088-122213089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61390381	chr8:122213092-122213093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12546834	chr8:122213093-122213094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551426567	chr8:122213097-122213098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62528324	chr8:122213103-122213104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371772206	chr8:122213120-122213121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13258641	chr8:122213123-122213124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113482626	chr8:122213124-122213125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201012138	chr8:122213130-122213131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113531206	chr8:122213137-122213138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13258675	chr8:122213157-122213158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371095704	chr8:122213162-122213163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199609293	chr8:122213164-122213165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553854570	chr8:122213190-122213191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13258709	chr8:122213191-122213192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527424220	chr8:122213192-122213193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58066223	chr8:122213199-122213200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567352134	chr8:122213208-122213209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Burkitt''s lymphoma	20823134	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122203800-122213400	Weak transcription	Fetal Lung	lung
2	chr8:122208800-122213400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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