Variant report

Variant	esv3329745
Chromosome Location	chr1:72506864-72508762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147198646	chr1:72506871-72506872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571184160	chr1:72506914-72506915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538655326	chr1:72506985-72506986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533561596	chr1:72506993-72506994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183065850	chr1:72507027-72507028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567030781	chr1:72507042-72507043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536298087	chr1:72507111-72507112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199545734	chr1:72507115-72507116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552107464	chr1:72507129-72507130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371308191	chr1:72507130-72507131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188420055	chr1:72507146-72507147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575830845	chr1:72507187-72507188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72680860	chr1:72507233-72507234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558446506	chr1:72507246-72507247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539244361	chr1:72507259-72507260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374758932	chr1:72507266-72507267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560479459	chr1:72507304-72507305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17092217	chr1:72507306-72507307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572510165	chr1:72507329-72507330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72939626	chr1:72507341-72507342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542565386	chr1:72507370-72507371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571932363	chr1:72507402-72507403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114797957	chr1:72507410-72507411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551255692	chr1:72507416-72507417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149672223	chr1:72507417-72507418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398102862	chr1:72507431-72507432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571220448	chr1:72507490-72507491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201725635	chr1:72507499-72507500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12076834	chr1:72507508-72507509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111236144	chr1:72507571-72507572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67757132	chr1:72507572-72507573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34862626	chr1:72507578-72507579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397941589	chr1:72507579-72507580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546992654	chr1:72507620-72507621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151236609	chr1:72507629-72507630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139253395	chr1:72507640-72507641	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs12123162	chr1:72507649-72507650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144231602	chr1:72507663-72507664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530664805	chr1:72507711-72507712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191705311	chr1:72507712-72507713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556253545	chr1:72507732-72507733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569623924	chr1:72507787-72507788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183990353	chr1:72507794-72507795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141447214	chr1:72507817-72507818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558343547	chr1:72507848-72507849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537659913	chr1:72507909-72507910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578251525	chr1:72507911-72507912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2630389	chr1:72507914-72507915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187819673	chr1:72507950-72507951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369404775	chr1:72507986-72507987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72500600-72512600	Weak transcription	Pancreas	Pancrea
2	chr1:72507800-72508000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72507800-72508200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:72507800-72508200	Enhancers	Dnd41	blood
5	chr1:72507800-72508200	Enhancers	HUVEC	blood vessel
6	chr1:72507800-72508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:72508000-72508400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:72508400-72508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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