Variant report

Variant	esv3322290
Chromosome Location	chr1:57829964-57831712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 93 )

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	rs75854522	chr1:57830002-57830003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545756623	chr1:57830081-57830082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182398430	chr1:57830100-57830101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575936870	chr1:57830115-57830116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187099863	chr1:57830134-57830135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533466510	chr1:57830145-57830146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191911615	chr1:57830146-57830147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556137932	chr1:57830153-57830154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75965323	chr1:57830172-57830173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559935926	chr1:57830200-57830201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532132519	chr1:57830219-57830220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528279644	chr1:57830297-57830298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538877045	chr1:57830298-57830299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183022303	chr1:57830303-57830304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568796828	chr1:57830310-57830311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367824621	chr1:57830312-57830313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141414408	chr1:57830356-57830357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547950984	chr1:57830383-57830384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11207019	chr1:57830392-57830393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187518984	chr1:57830396-57830397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553422935	chr1:57830434-57830435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144119806	chr1:57830515-57830516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193014737	chr1:57830529-57830530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185739880	chr1:57830538-57830539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111999876	chr1:57830539-57830540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1646772	chr1:57830540-57830541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1646771	chr1:57830542-57830543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116525419	chr1:57830544-57830545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544824086	chr1:57830563-57830564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554824773	chr1:57830599-57830600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543979450	chr1:57830671-57830672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34643968	chr1:57830679-57830680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72674873	chr1:57830687-57830688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560174018	chr1:57830707-57830708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189071017	chr1:57830711-57830712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545361630	chr1:57830727-57830728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138432201	chr1:57830734-57830735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71703607	chr1:57830735-57830736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571972609	chr1:57830748-57830749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113292235	chr1:57830924-57830925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10889040	chr1:57831010-57831011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112469432	chr1:57831029-57831030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531452887	chr1:57831124-57831125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192654431	chr1:57831165-57831166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562477697	chr1:57831174-57831175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563762055	chr1:57831196-57831197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532894651	chr1:57831221-57831222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548371337	chr1:57831236-57831237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183750040	chr1:57831240-57831241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6669975	chr1:57831248-57831249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57819400-57832000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:57823800-57833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57827400-57833800	Weak transcription	Fetal Brain Female	brain
4	chr1:57828600-57836800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:57829200-57833000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57829600-57843400	Weak transcription	Fetal Heart	heart
7	chr1:57829800-57830200	Enhancers	Fetal Brain Male	brain
8	chr1:57830200-57841800	Weak transcription	Fetal Brain Male	brain

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