Variant report

Variant	esv3389592
Chromosome Location	chr1:86680114-86684012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540997545	chr1:86680145-86680146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544338427	chr1:86680147-86680148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74828700	chr1:86680187-86680188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77651549	chr1:86680203-86680204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542874551	chr1:86680207-86680208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559636607	chr1:86680254-86680255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78285499	chr1:86680286-86680287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79247745	chr1:86680317-86680318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182517970	chr1:86680342-86680343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386633146	chr1:86680368-86680369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76235050	chr1:86680369-86680370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531349622	chr1:86680426-86680427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78105006	chr1:86680440-86680441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536659743	chr1:86680449-86680450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546886905	chr1:86680457-86680458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528223975	chr1:86680464-86680465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139101345	chr1:86680485-86680486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538954972	chr1:86680486-86680487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527306211	chr1:86680518-86680519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149492695	chr1:86680521-86680522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567866530	chr1:86680531-86680532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575444887	chr1:86680637-86680638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111471026	chr1:86680657-86680658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79754939	chr1:86680660-86680661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574061561	chr1:86680682-86680683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539864464	chr1:86680683-86680684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553380700	chr1:86680750-86680751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570181334	chr1:86680758-86680759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529590467	chr1:86680759-86680760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377528097	chr1:86680873-86680874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370734784	chr1:86681059-86681060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143941494	chr1:86681132-86681133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368258319	chr1:86681282-86681283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372460477	chr1:86681309-86681310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573443115	chr1:86681310-86681311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140137567	chr1:86681317-86681318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139837940	chr1:86681342-86681343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531143548	chr1:86681343-86681344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544681652	chr1:86681382-86681383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565631442	chr1:86681501-86681502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538283794	chr1:86681590-86681591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371276755	chr1:86681679-86681680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374800690	chr1:86681779-86681780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61800625	chr1:86681832-86681833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371753157	chr1:86681869-86681870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376161013	chr1:86681905-86681906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369449988	chr1:86681906-86681907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549739619	chr1:86682057-86682058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373690369	chr1:86682086-86682087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112655484	chr1:86682152-86682153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86678800-86683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:86683000-86683800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:86683000-86685000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:86683000-86687000	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:86683200-86687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86683600-86684200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:86683800-86684600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:86683800-86684800	Enhancers	Primary T cells from cord blood	blood
9	chr1:86684000-86685400	Enhancers	Dnd41	blood

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