Variant report

Variant	esv3378992
Chromosome Location	chr1:57512300-57512648
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	chr1:57510764..57512729-chr1:57516872..57518806,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572852575	chr1:57512313-57512314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545069794	chr1:57512325-57512326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565169797	chr1:57512329-57512330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9651187	chr1:57512345-57512346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550704876	chr1:57512359-57512360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560948296	chr1:57512399-57512400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138816803	chr1:57512455-57512456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186863956	chr1:57512460-57512461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565867080	chr1:57512465-57512466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74371125	chr1:57512500-57512501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78754778	chr1:57512501-57512502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76157882	chr1:57512502-57512503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78548844	chr1:57512503-57512504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58394001	chr1:57512519-57512520	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554600911	chr1:57512520-57512521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368534840	chr1:57512527-57512528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571860139	chr1:57512599-57512600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577791775	chr1:57512618-57512619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75610384	chr1:57512647-57512648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57496400-57514200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:57500800-57526000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57501200-57526200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:57508600-57513200	Weak transcription	Fetal Brain Male	brain
6	chr1:57511400-57512800	Enhancers	Fetal Brain Female	brain
7	chr1:57512400-57512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:57512600-57525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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