Variant report

Variant	esv3406066
Chromosome Location	chr1:72407514-72409912
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	chr1:72399874..72402263-chr1:72409207..72411359,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564779170	chr1:72407527-72407528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552450809	chr1:72407557-72407558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181860812	chr1:72407559-72407560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547030785	chr1:72407598-72407599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566940458	chr1:72407604-72407605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570514840	chr1:72407617-72407618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558897417	chr1:72407634-72407635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535601709	chr1:72407660-72407661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4111091	chr1:72407755-72407756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150506802	chr1:72407774-72407775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145764537	chr1:72407866-72407867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28615945	chr1:72407874-72407875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12067782	chr1:72407886-72407887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531356617	chr1:72407889-72407890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577540459	chr1:72407895-72407896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60254465	chr1:72407946-72407947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200932793	chr1:72407950-72407951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533512791	chr1:72407983-72407984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77834460	chr1:72407985-72407986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189517062	chr1:72408073-72408074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138425062	chr1:72408092-72408093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12139493	chr1:72408138-72408139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577168415	chr1:72408140-72408141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576595710	chr1:72408162-72408163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28668112	chr1:72408166-72408167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34446850	chr1:72408167-72408168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61271690	chr1:72408168-72408169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58719826	chr1:72408169-72408170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373943265	chr1:72408170-72408171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61377000	chr1:72408171-72408172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377407915	chr1:72408172-72408173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57088503	chr1:72408173-72408174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370942611	chr1:72408174-72408175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57736517	chr1:72408175-72408176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61592625	chr1:72408176-72408177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58608473	chr1:72408177-72408178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71651501	chr1:72408216-72408217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568141349	chr1:72408250-72408251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535580380	chr1:72408251-72408252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556991477	chr1:72408254-72408255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375502640	chr1:72408278-72408279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368540442	chr1:72408330-72408331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537699145	chr1:72408334-72408335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12139547	chr1:72408348-72408349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559217639	chr1:72408402-72408403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575708992	chr1:72408410-72408411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577335493	chr1:72408476-72408477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544822265	chr1:72408477-72408478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71651502	chr1:72408505-72408506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372803620	chr1:72408551-72408552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
small cell lung cancer	20016488	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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72389800-72409600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:72396800-72409200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72409200-72409600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:72409200-72411800	Enhancers	Dnd41	blood
5	chr1:72409400-72410200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:72409600-72410000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:72409600-72410200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:72409600-72410400	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:72409600-72412000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:72409800-72410200	Enhancers	Liver	Liver
11	chr1:72409800-72410200	Enhancers	Fetal Thymus	thymus
12	chr1:72409800-72410200	Enhancers	Thymus	Thymus

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