Variant report

Variant	esv3404216
Chromosome Location	chr1:74779414-74780512
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	chr1:74701198..74703916-chr1:74780316..74782785,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200256425	chr1:74779418-74779419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376612304	chr1:74779449-74779450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189315084	chr1:74779452-74779453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370737894	chr1:74779549-74779550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568904646	chr1:74779583-74779584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541962	chr1:74779607-74779608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74093683	chr1:74779657-74779658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200620321	chr1:74779728-74779729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201922658	chr1:74779729-74779730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs507036	chr1:74779731-74779732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200433940	chr1:74779733-74779734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36126266	chr1:74779741-74779742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199749039	chr1:74779744-74779745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201811033	chr1:74779746-74779747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201589121	chr1:74779753-74779754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71078189	chr1:74779755-74779756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12078779	chr1:74779763-74779764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11210448	chr1:74779765-74779766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139352875	chr1:74779844-74779845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572752765	chr1:74779957-74779958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376215922	chr1:74780089-74780090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566640207	chr1:74780099-74780100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576955387	chr1:74780107-74780108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77381489	chr1:74780136-74780137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77603131	chr1:74780195-74780196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372411201	chr1:74780240-74780241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571413385	chr1:74780245-74780246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181940370	chr1:74780273-74780274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143181943	chr1:74780294-74780295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560491265	chr1:74780301-74780302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377654554	chr1:74780315-74780316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527962963	chr1:74780321-74780322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569564	chr1:74780335-74780336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185947913	chr1:74780356-74780357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190762434	chr1:74780357-74780358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368200461	chr1:74780373-74780374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567346	chr1:74780385-74780386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570363	chr1:74780389-74780390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535944695	chr1:74780446-74780447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554112652	chr1:74780458-74780459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369016027	chr1:74780468-74780469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75698878	chr1:74780497-74780498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
Papillary thyroid carcinoma	21436994	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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74777600-74781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:74779400-74781400	Weak transcription	Fetal Heart	heart
3	chr1:74779400-74784800	Weak transcription	Left Ventricle	heart
4	chr1:74779400-74784800	Weak transcription	Right Atrium	heart

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