Variant report

Variant	esv17971
Chromosome Location	chr8:118005483-118008163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117999026..118002004-chr8:118003208..118005639,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 132 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538729513	chr8:118006836-118006837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34438560	chr8:118006844-118006845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191095028	chr8:118006877-118006878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556853977	chr8:118006888-118006889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368230798	chr8:118006938-118006939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73312261	chr8:118006961-118006962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564175717	chr8:118007009-118007010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559356964	chr8:118007051-118007052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182513664	chr8:118007057-118007058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539962141	chr8:118007084-118007085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561681236	chr8:118007086-118007087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144253803	chr8:118007087-118007088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551259190	chr8:118007095-118007096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563156745	chr8:118007114-118007115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374397997	chr8:118007118-118007119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533693380	chr8:118007134-118007135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377495119	chr8:118007139-118007140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570435013	chr8:118007179-118007180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138237475	chr8:118007184-118007185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386729093	chr8:118007295-118007296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534661917	chr8:118007296-118007297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115446732	chr8:118007297-118007298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187596606	chr8:118007312-118007313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145362675	chr8:118007313-118007314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546273008	chr8:118007324-118007325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149198516	chr8:118007333-118007334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375852968	chr8:118007337-118007338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539391321	chr8:118007338-118007339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374168299	chr8:118007348-118007349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143331771	chr8:118007393-118007394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554943813	chr8:118007397-118007398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572958549	chr8:118007478-118007479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73312263	chr8:118007556-118007557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561643035	chr8:118007660-118007661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191963796	chr8:118007722-118007723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573812445	chr8:118007737-118007738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575067458	chr8:118007742-118007743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74725737	chr8:118007796-118007797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151336186	chr8:118007802-118007803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183035333	chr8:118007869-118007870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554877810	chr8:118007871-118007872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141853105	chr8:118007909-118007910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34537317	chr8:118007938-118007939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533658138	chr8:118007950-118007951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187418108	chr8:118007960-118007961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560688107	chr8:118007965-118007966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191882179	chr8:118007986-118007987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146931575	chr8:118008018-118008019	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116597467	chr8:118008039-118008040	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531738805	chr8:118008059-118008060	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:132)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118006800-118008000	Enhancers	Fetal Heart	heart
2	chr8:118007400-118007600	Enhancers	Rectal Smooth Muscle	rectum
3	chr8:118007600-118008800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:118007800-118008000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:118007800-118008400	Enhancers	Stomach Smooth Muscle	stomach
6	chr8:118008000-118008200	Enhancers	Colon Smooth Muscle	Colon
7	chr8:118008000-118008400	Flanking Active TSS	Fetal Heart	heart

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