Variant report

Variant	esv1808295
Chromosome Location	chr1:86385776-86392071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 325 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7516144	chr1:86385776-86385777	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181823896	chr1:86385795-86385796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371236081	chr1:86385808-86385809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186184258	chr1:86385824-86385825	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375312909	chr1:86385839-86385840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115216155	chr1:86385840-86385841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs4912450	chr1:86385876-86385877	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs544862716	chr1:86385882-86385883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75061721	chr1:86385924-86385925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190092232	chr1:86385961-86385962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546242446	chr1:86385992-86385993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181759720	chr1:86386011-86386012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs371327972	chr1:86386030-86386031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372401956	chr1:86386031-86386032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542152717	chr1:86386035-86386036	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs72712740	chr1:86386047-86386048	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34311233	chr1:86386056-86386057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527329689	chr1:86386088-86386089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533468840	chr1:86386103-86386104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186505383	chr1:86386122-86386123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547031519	chr1:86386171-86386172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145663886	chr1:86386229-86386230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs138133337	chr1:86386235-86386236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549822185	chr1:86386314-86386315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569356272	chr1:86386343-86386344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531895548	chr1:86386350-86386351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560301265	chr1:86386351-86386352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs80230591	chr1:86386398-86386399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548516041	chr1:86386399-86386400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568391220	chr1:86386430-86386431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533963664	chr1:86386440-86386441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72954517	chr1:86386441-86386442	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191409087	chr1:86386465-86386466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539552748	chr1:86386494-86386495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs556578654	chr1:86386502-86386503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148912389	chr1:86386511-86386512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs76142804	chr1:86386539-86386540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143586786	chr1:86386550-86386551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs182212799	chr1:86386551-86386552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184916169	chr1:86386577-86386578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371753632	chr1:86386596-86386597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532896766	chr1:86386606-86386607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545007400	chr1:86386613-86386614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112428357	chr1:86386614-86386615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563389997	chr1:86386615-86386616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs71078629	chr1:86386623-86386624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201884580	chr1:86386624-86386625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148040608	chr1:86386658-86386659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531813868	chr1:86386666-86386667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190947733	chr1:86386694-86386695	ZNF genes & repeats	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86366800-86386400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:86381400-86386000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:86384800-86387800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86386000-86387600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr1:86386000-86387600	ZNF genes & repeats	Fetal Lung	lung
6	chr1:86386400-86387200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr1:86387600-86399000	Weak transcription	Fetal Lung	lung
8	chr1:86387600-86399400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:86391000-86403200	Weak transcription	Primary hematopoietic stem cells	blood

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