Variant report

Variant	esv2763935
Chromosome Location	chr1:58723558-58733326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:58722416..58724317-chr1:58724409..58727199,2	K562	blood:
2	chr1:58722434..58724317-chr1:58724409..58727876,3	K562	blood:
3	chr1:58722434..58724317-chr1:58724409..58727876,3	K562	blood:
4	chr1:58722416..58724317-chr1:58724409..58727199,2	K562	blood:

Extended variants
information (count: 324 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17117200	chr1:58723558-58723559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185583777	chr1:58723571-58723572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113198166	chr1:58723603-58723604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188927372	chr1:58723615-58723616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17440773	chr1:58723623-58723624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs367726793	chr1:58723650-58723651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547808763	chr1:58723719-58723720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567714395	chr1:58723729-58723730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527392332	chr1:58723742-58723743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547133155	chr1:58723814-58723815	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs538175819	chr1:58723843-58723844	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs11207181	chr1:58723844-58723845	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs567078683	chr1:58723903-58723904	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs538825890	chr1:58723949-58723950	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs559092134	chr1:58724037-58724038	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569599954	chr1:58724038-58724039	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538537171	chr1:58724084-58724085	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555042388	chr1:58724117-58724118	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181684572	chr1:58724156-58724157	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187018863	chr1:58724162-58724163	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569246785	chr1:58724163-58724164	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553946180	chr1:58724220-58724221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191806466	chr1:58724233-58724234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545710814	chr1:58724236-58724237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561807249	chr1:58724242-58724243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562318314	chr1:58724262-58724263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563181228	chr1:58724314-58724315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1416340	chr1:58724341-58724342	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541681636	chr1:58724362-58724363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561351509	chr1:58724386-58724387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139310542	chr1:58724458-58724459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61779247	chr1:58724460-58724461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147298314	chr1:58724488-58724489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185808057	chr1:58724501-58724502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570488050	chr1:58724570-58724571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538347553	chr1:58724597-58724598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189976322	chr1:58724612-58724613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182584441	chr1:58724654-58724655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569465952	chr1:58724683-58724684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1009368	chr1:58724719-58724720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs140873450	chr1:58724825-58724826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368248695	chr1:58724834-58724835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369325335	chr1:58724857-58724858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533906626	chr1:58724877-58724878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554117328	chr1:58724902-58724903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577292456	chr1:58724970-58724971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370121764	chr1:58725015-58725016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374634282	chr1:58725016-58725017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376328549	chr1:58725017-58725018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397730676	chr1:58725020-58725021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	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
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	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
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58722800-58723800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:58723000-58724200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:58723600-58724000	Enhancers	Fetal Brain Male	brain
4	chr1:58723800-58724000	Enhancers	Ovary	ovary
5	chr1:58723800-58724200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr1:58724000-58724400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:58724000-58759600	Weak transcription	Ovary	ovary
8	chr1:58731000-58731400	Enhancers	Pancreatic Islets	Pancreatic Islet

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