Variant report

Variant	esv3336072
Chromosome Location	chr1:10915332-10915783
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	chr1:10914701..10916708-chr1:10923191..10926876,3	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554404015	chr1:10915355-10915356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149290458	chr1:10915382-10915383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367548621	chr1:10915383-10915384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543291706	chr1:10915425-10915426	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs34542452	chr1:10915427-10915428	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539596313	chr1:10915439-10915440	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs531705574	chr1:10915483-10915484	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs566508181	chr1:10915484-10915485	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs185095485	chr1:10915492-10915493	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs143559413	chr1:10915498-10915499	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs667444	chr1:10915507-10915508	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538709511	chr1:10915529-10915530	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs570494652	chr1:10915546-10915547	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs542757717	chr1:10915570-10915571	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs148314429	chr1:10915583-10915584	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs548442748	chr1:10915609-10915610	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533390898	chr1:10915664-10915665	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537265389	chr1:10915675-10915676	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537015190	chr1:10915690-10915691	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552159058	chr1:10915722-10915723	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558373018	chr1:10915739-10915740	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs511730	chr1:10915740-10915741	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555515998	chr1:10915743-10915744	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10912800-10916200	Weak transcription	Fetal Heart	heart
2	chr1:10912800-10917200	Weak transcription	Psoas Muscle	Psoas
3	chr1:10913000-10915600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:10913200-10916200	Weak transcription	Right Ventricle	heart
5	chr1:10914000-10920800	Weak transcription	Gastric	stomach
6	chr1:10915400-10918600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:10915600-10916600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:10915600-10919400	Enhancers	Fetal Muscle Leg	muscle

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