Variant report

Variant	esv3320360
Chromosome Location	chr1:86400464-86406462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12759079	chr1:86400546-86400547	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149793915	chr1:86400593-86400594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58159337	chr1:86400609-86400610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541154089	chr1:86400618-86400619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145716861	chr1:86400623-86400624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137931540	chr1:86400635-86400636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74965954	chr1:86400645-86400646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540542967	chr1:86400647-86400648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577068523	chr1:86400680-86400681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139841210	chr1:86400724-86400725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114098668	chr1:86400737-86400738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532992046	chr1:86400739-86400740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549554809	chr1:86400753-86400754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192804209	chr1:86400810-86400811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542126506	chr1:86400858-86400859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144520912	chr1:86400926-86400927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527665375	chr1:86400928-86400929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547958279	chr1:86400995-86400996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183597412	chr1:86401007-86401008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562669043	chr1:86401045-86401046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189492560	chr1:86401061-86401062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535157244	chr1:86401082-86401083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569839307	chr1:86401201-86401202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535756892	chr1:86401211-86401212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181819720	chr1:86401223-86401224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115212602	chr1:86401224-86401225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534319208	chr1:86401249-86401250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557469628	chr1:86401255-86401256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368190129	chr1:86401333-86401334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531435505	chr1:86401343-86401344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147839578	chr1:86401415-86401416	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556356895	chr1:86401416-86401417	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372404340	chr1:86401445-86401446	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61785119	chr1:86401451-86401452	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186177017	chr1:86401483-86401484	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527262394	chr1:86401498-86401499	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562242049	chr1:86401507-86401508	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572445114	chr1:86401527-86401528	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190345173	chr1:86401602-86401603	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547345398	chr1:86401652-86401653	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567907537	chr1:86401675-86401676	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533486934	chr1:86401742-86401743	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111492080	chr1:86401841-86401842	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200213900	chr1:86401843-86401844	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199784979	chr1:86401844-86401845	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565511590	chr1:86401856-86401857	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550264956	chr1:86401858-86401859	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563530967	chr1:86401918-86401919	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529055235	chr1:86401926-86401927	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549303180	chr1:86401946-86401947	Flanking Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86391000-86403200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:86393600-86402000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:86399000-86401400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:86399000-86402400	Enhancers	Fetal Lung	lung
5	chr1:86399200-86400600	Enhancers	Fetal Stomach	stomach
6	chr1:86400000-86401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:86400200-86401200	Weak transcription	Adipose Nuclei	Adipose
8	chr1:86400200-86402800	Enhancers	Liver	Liver
9	chr1:86400400-86400600	Enhancers	Stomach Smooth Muscle	stomach
10	chr1:86400600-86401400	Weak transcription	Fetal Stomach	stomach
11	chr1:86400600-86402600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:86401200-86403000	Enhancers	Adipose Nuclei	Adipose
13	chr1:86401200-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:86401400-86401800	Enhancers	Fetal Stomach	stomach
15	chr1:86401400-86402200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:86401600-86404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:86401800-86404600	Weak transcription	Fetal Stomach	stomach
18	chr1:86402000-86405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:86402200-86403000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:86402400-86402600	Flanking Active TSS	Fetal Lung	lung
21	chr1:86402600-86402800	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:86402600-86403400	Genic enhancers	Fetal Lung	lung
23	chr1:86402800-86403400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:86403000-86406200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:86403200-86404200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr1:86403400-86406200	Weak transcription	Fetal Lung	lung
27	chr1:86403800-86405000	Weak transcription	Psoas Muscle	Psoas
28	chr1:86404200-86416000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:86404600-86405600	Enhancers	Fetal Stomach	stomach
30	chr1:86404800-86411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:86405000-86405200	ZNF genes & repeats	Psoas Muscle	Psoas
32	chr1:86405400-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:86405600-86406000	Weak transcription	Fetal Stomach	stomach
34	chr1:86406000-86407600	Enhancers	Fetal Stomach	stomach
35	chr1:86406200-86406400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:86406200-86406600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:86406200-86407200	Enhancers	Fetal Lung	lung

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