Variant report

Variant	esv1811992
Chromosome Location	chr1:86392577-86404496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86397392..86400390-chr9:100675486..100677661,2	K562	blood:
2	chr1:86397300..86400343-chr9:100673063..100676674,4	K562	blood:

Variant related genes	Relation type
ENSG00000136932	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:310 , 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	rs11578202	chr1:86392577-86392578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530715583	chr1:86392594-86392595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67487620	chr1:86392603-86392604	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566964023	chr1:86392632-86392633	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186558779	chr1:86392643-86392644	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546704317	chr1:86392648-86392649	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566429735	chr1:86392673-86392674	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191016841	chr1:86392675-86392676	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181601830	chr1:86392709-86392710	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185922052	chr1:86392757-86392758	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10782562	chr1:86392767-86392768	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557669056	chr1:86392768-86392769	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191243084	chr1:86392811-86392812	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559661433	chr1:86392813-86392814	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs530191366	chr1:86392814-86392815	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146081698	chr1:86392823-86392824	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183156125	chr1:86392824-86392825	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12033365	chr1:86392837-86392838	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs550489631	chr1:86392849-86392850	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186259991	chr1:86392888-86392889	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200422971	chr1:86392901-86392902	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371781276	chr1:86392902-86392903	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529734278	chr1:86392904-86392905	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6667008	chr1:86392912-86392913	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566414543	chr1:86392915-86392916	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532127467	chr1:86392916-86392917	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370196066	chr1:86392918-86392919	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571901835	chr1:86392920-86392921	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs28415684	chr1:86392923-86392924	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557730269	chr1:86392933-86392934	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs28721421	chr1:86392948-86392949	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567876658	chr1:86392949-86392950	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577873647	chr1:86392956-86392957	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536906480	chr1:86392975-86392976	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553115640	chr1:86392981-86392982	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs573158459	chr1:86392982-86392983	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs28571037	chr1:86392983-86392984	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558606064	chr1:86392995-86392996	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575143197	chr1:86393003-86393004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs543992771	chr1:86393007-86393008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138003291	chr1:86393016-86393017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529947490	chr1:86393021-86393022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376661053	chr1:86393026-86393027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs559907144	chr1:86393033-86393034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532115938	chr1:86393045-86393046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4634934	chr1:86393077-86393078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs28590012	chr1:86393098-86393099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375335490	chr1:86393104-86393105	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568967240	chr1:86393115-86393116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376673390	chr1:86393121-86393122	Weak transcription 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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86387600-86399000	Weak transcription	Fetal Lung	lung
2	chr1:86387600-86399400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:86391000-86403200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:86392600-86393000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:86392600-86393600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:86393600-86402000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86399000-86401400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:86399000-86402400	Enhancers	Fetal Lung	lung
9	chr1:86399200-86400600	Enhancers	Fetal Stomach	stomach
10	chr1:86399400-86400000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:86399600-86400200	Enhancers	Adipose Nuclei	Adipose
12	chr1:86400000-86401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:86400200-86401200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:86400200-86402800	Enhancers	Liver	Liver
15	chr1:86400400-86400600	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:86400600-86401400	Weak transcription	Fetal Stomach	stomach
17	chr1:86400600-86402600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:86401200-86403000	Enhancers	Adipose Nuclei	Adipose
19	chr1:86401200-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:86401400-86401800	Enhancers	Fetal Stomach	stomach
21	chr1:86401400-86402200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:86401600-86404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:86401800-86404600	Weak transcription	Fetal Stomach	stomach
24	chr1:86402000-86405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:86402200-86403000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:86402400-86402600	Flanking Active TSS	Fetal Lung	lung
27	chr1:86402600-86402800	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:86402600-86403400	Genic enhancers	Fetal Lung	lung
29	chr1:86402800-86403400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:86403000-86406200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:86403200-86404200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr1:86403400-86406200	Weak transcription	Fetal Lung	lung
33	chr1:86403800-86405000	Weak transcription	Psoas Muscle	Psoas
34	chr1:86404200-86416000	Weak transcription	Primary hematopoietic stem cells	blood

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