Variant report

Variant	esv1803171
Chromosome Location	chr1:86551864-86556298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs11161729	chr1:86551864-86551865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77294568	chr1:86551921-86551922	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560039510	chr1:86551958-86551959	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373384883	chr1:86551960-86551961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185181524	chr1:86551968-86551969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188087531	chr1:86551987-86551988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537169877	chr1:86551998-86551999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs118151484	chr1:86552064-86552065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550917896	chr1:86552210-86552211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1507281	chr1:86552226-86552227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs10782563	chr1:86552269-86552270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552990861	chr1:86552333-86552334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12723978	chr1:86552334-86552335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540136972	chr1:86552351-86552352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372434624	chr1:86552361-86552362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182015136	chr1:86552438-86552439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538823381	chr1:86552537-86552538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558818349	chr1:86552544-86552545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186248969	chr1:86552559-86552560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191594957	chr1:86552640-86552641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80165623	chr1:86552655-86552656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6665375	chr1:86552664-86552665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs143443746	chr1:86552672-86552673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559602524	chr1:86552744-86552745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183496649	chr1:86552756-86552757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568274629	chr1:86552788-86552789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149447803	chr1:86552868-86552869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148177466	chr1:86552878-86552879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370575407	chr1:86552881-86552882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112079526	chr1:86552913-86552914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115516926	chr1:86552936-86552937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562201042	chr1:86552945-86552946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531219755	chr1:86552957-86552958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370391454	chr1:86552970-86552971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567795519	chr1:86553022-86553023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530033705	chr1:86553040-86553041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547007638	chr1:86553139-86553140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11161730	chr1:86553155-86553156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141977422	chr1:86553170-86553171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12136002	chr1:86553238-86553239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34168319	chr1:86553276-86553277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538087735	chr1:86553281-86553282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146632358	chr1:86553284-86553285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374465803	chr1:86553288-86553289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182906090	chr1:86553336-86553337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186932309	chr1:86553348-86553349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117439352	chr1:86553376-86553377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191407677	chr1:86553379-86553380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183373264	chr1:86553403-86553404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573165795	chr1:86553404-86553405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86547000-86556800	Weak transcription	Pancreas	Pancrea
2	chr1:86547400-86553600	Weak transcription	Fetal Lung	lung
3	chr1:86550600-86552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:86550800-86552200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:86550800-86552200	Enhancers	Dnd41	blood
6	chr1:86550800-86570400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:86551000-86552000	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:86551200-86552200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:86551200-86552200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:86551400-86552000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:86551800-86552000	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:86552000-86552200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:86552000-86552200	Enhancers	Colon Smooth Muscle	Colon
14	chr1:86552000-86552200	Enhancers	GM12878-XiMat	blood
15	chr1:86552000-86554600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:86552200-86552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:86553600-86556000	Strong transcription	Fetal Lung	lung
18	chr1:86554200-86554400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:86555400-86555600	Active TSS	HepG2	liver
20	chr1:86555600-86555800	Flanking Active TSS	HepG2	liver
21	chr1:86556000-86570200	Weak transcription	Fetal Lung	lung

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