Variant report

Variant	esv2595836
Chromosome Location	chr1:86405148-86406593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551391894	chr1:86405155-86405156	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569938758	chr1:86405259-86405260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532595901	chr1:86405295-86405296	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552722283	chr1:86405297-86405298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575081331	chr1:86405345-86405346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544207213	chr1:86405354-86405355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147666749	chr1:86405513-86405514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574390447	chr1:86405532-86405533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139797368	chr1:86405566-86405567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554906266	chr1:86405603-86405604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149927809	chr1:86405604-86405605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533731782	chr1:86405613-86405614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539998700	chr1:86405712-86405713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188172246	chr1:86405739-86405740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532264509	chr1:86405756-86405757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552266567	chr1:86405780-86405781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199998002	chr1:86405806-86405807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200943170	chr1:86405807-86405808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201807976	chr1:86405808-86405809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7524481	chr1:86405835-86405836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566081610	chr1:86405947-86405948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535115041	chr1:86405953-86405954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74878896	chr1:86406095-86406096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536501334	chr1:86406129-86406130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185044601	chr1:86406184-86406185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566495686	chr1:86406189-86406190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140504857	chr1:86406215-86406216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7524896	chr1:86406230-86406231	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12027109	chr1:86406318-86406319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12034125	chr1:86406369-86406370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115190006	chr1:86406372-86406373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538035745	chr1:86406373-86406374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554426797	chr1:86406391-86406392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74097617	chr1:86406413-86406414	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190377151	chr1:86406417-86406418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556467247	chr1:86406449-86406450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560203819	chr1:86406458-86406459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574126479	chr1:86406492-86406493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181938383	chr1:86406508-86406509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61785120	chr1:86406518-86406519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80078113	chr1:86406546-86406547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34389013	chr1:86406549-86406550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576381168	chr1:86406580-86406581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376899580	chr1:86406585-86406586	Enhancers Weak transcription	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86401200-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:86402000-86405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:86403000-86406200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:86403400-86406200	Weak transcription	Fetal Lung	lung
5	chr1:86404200-86416000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:86404600-86405600	Enhancers	Fetal Stomach	stomach
7	chr1:86404800-86411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:86405000-86405200	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr1:86405400-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:86405600-86406000	Weak transcription	Fetal Stomach	stomach
11	chr1:86406000-86407600	Enhancers	Fetal Stomach	stomach
12	chr1:86406200-86406400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:86406200-86406600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:86406200-86407200	Enhancers	Fetal Lung	lung

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