Variant report

Variant	nsv546753
Chromosome Location	chr1:86402469-86404496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12751687	chr1:86402469-86402470	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150978456	chr1:86402479-86402480	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543960891	chr1:86402482-86402483	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563626736	chr1:86402553-86402554	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529125170	chr1:86402604-86402605	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548912713	chr1:86402712-86402713	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140795848	chr1:86402782-86402783	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534743908	chr1:86402793-86402794	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150105801	chr1:86402828-86402829	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74097615	chr1:86402850-86402851	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138538910	chr1:86402881-86402882	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141484579	chr1:86402931-86402932	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145902106	chr1:86402934-86402935	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35487939	chr1:86402966-86402967	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567260466	chr1:86403075-86403076	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34734020	chr1:86403108-86403109	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112623830	chr1:86403116-86403117	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138500906	chr1:86403126-86403127	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555704935	chr1:86403151-86403152	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149634184	chr1:86403157-86403158	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535374017	chr1:86403190-86403191	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558465868	chr1:86403220-86403221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11581312	chr1:86403304-86403305	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372994820	chr1:86403341-86403342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578104587	chr1:86403416-86403417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112003528	chr1:86403456-86403457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543827085	chr1:86403489-86403490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144354940	chr1:86403565-86403566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190987685	chr1:86403601-86403602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543077434	chr1:86403715-86403716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559321649	chr1:86403729-86403730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528251983	chr1:86403872-86403873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544951129	chr1:86403900-86403901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564831579	chr1:86403948-86403949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183394063	chr1:86403965-86403966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550310226	chr1:86403969-86403970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529159558	chr1:86403977-86403978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542894654	chr1:86403981-86403982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187707961	chr1:86403999-86404000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117597718	chr1:86404000-86404001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566305335	chr1:86404037-86404038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148760778	chr1:86404059-86404060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193197008	chr1:86404063-86404064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115597757	chr1:86404182-86404183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34589269	chr1:86404202-86404203	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs55890217	chr1:86404212-86404213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537700504	chr1:86404230-86404231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55882627	chr1:86404325-86404326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80296648	chr1:86404376-86404377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573941964	chr1:86404407-86404408	Weak transcription Strong 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:18 , 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	chr1:86400200-86402800	Enhancers	Liver	Liver
3	chr1:86400600-86402600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:86401200-86403000	Enhancers	Adipose Nuclei	Adipose
5	chr1:86401200-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86401600-86404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:86401800-86404600	Weak transcription	Fetal Stomach	stomach
8	chr1:86402000-86405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:86402200-86403000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:86402400-86402600	Flanking Active TSS	Fetal Lung	lung
11	chr1:86402600-86402800	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:86402600-86403400	Genic enhancers	Fetal Lung	lung
13	chr1:86402800-86403400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:86403000-86406200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:86403200-86404200	Strong transcription	Primary hematopoietic stem cells	blood
16	chr1:86403400-86406200	Weak transcription	Fetal Lung	lung
17	chr1:86403800-86405000	Weak transcription	Psoas Muscle	Psoas
18	chr1:86404200-86416000	Weak transcription	Primary hematopoietic stem cells	blood

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