Variant report

Variant	esv3481077
Chromosome Location	chr8:120017571-120022669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142711913	chr8:120017573-120017574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567394727	chr8:120017593-120017594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531790967	chr8:120017598-120017599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75752562	chr8:120017662-120017663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78496955	chr8:120017682-120017683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147427027	chr8:120017687-120017688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193246462	chr8:120017752-120017753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114845743	chr8:120017781-120017782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566179170	chr8:120017785-120017786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536787040	chr8:120017798-120017799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555091484	chr8:120017804-120017805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569984158	chr8:120017814-120017815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537430889	chr8:120017827-120017828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559007850	chr8:120017828-120017829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531145338	chr8:120017874-120017875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201775191	chr8:120017897-120017898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138214004	chr8:120017901-120017902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541229836	chr8:120017910-120017911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59943296	chr8:120017917-120017918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574682885	chr8:120017987-120017988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185701632	chr8:120018041-120018042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6469796	chr8:120018042-120018043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs575156270	chr8:120018057-120018058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112223488	chr8:120018076-120018077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60360696	chr8:120018097-120018098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189381232	chr8:120018113-120018114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141720005	chr8:120018127-120018128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546911365	chr8:120018137-120018138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369378231	chr8:120018153-120018154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6469797	chr8:120018159-120018160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529083438	chr8:120018166-120018167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548421034	chr8:120018220-120018221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374672952	chr8:120018221-120018222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554508448	chr8:120018262-120018263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574559072	chr8:120018284-120018285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6469798	chr8:120018291-120018292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs529891898	chr8:120018341-120018342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558088920	chr8:120018381-120018382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552499580	chr8:120018403-120018404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77691470	chr8:120018406-120018407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4397431	chr8:120018413-120018414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114292913	chr8:120018438-120018439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574723125	chr8:120018449-120018450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150562779	chr8:120018467-120018468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34771088	chr8:120018505-120018506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61364754	chr8:120018532-120018533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377764649	chr8:120018564-120018565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58732819	chr8:120018609-120018610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564152866	chr8:120018615-120018616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60012832	chr8:120018633-120018634	Enhancers	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
Oral squamous cell carcinoma	21853135	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120012800-120018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:120018000-120019600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:120019600-120021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:120021000-120021200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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