Variant report

Variant	esv3336292
Chromosome Location	chr1:77895245-77895624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148361057	chr1:77895297-77895298	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55897785	chr1:77895304-77895305	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532225248	chr1:77895305-77895306	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2647520	chr1:77895330-77895331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372532612	chr1:77895331-77895332	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74092618	chr1:77895361-77895362	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143300366	chr1:77895379-77895380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147543422	chr1:77895386-77895387	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529189797	chr1:77895390-77895391	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556277181	chr1:77895395-77895396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2647521	chr1:77895410-77895411	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539110081	chr1:77895424-77895425	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2803146	chr1:77895443-77895444	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575816794	chr1:77895444-77895445	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114492256	chr1:77895474-77895475	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143846740	chr1:77895476-77895477	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573573038	chr1:77895516-77895517	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2647522	chr1:77895517-77895518	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs147260706	chr1:77895524-77895525	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576890060	chr1:77895538-77895539	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs1498400	chr1:77895554-77895555	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs541395333	chr1:77895569-77895570	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77888000-77897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:77893000-77895800	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr1:77893800-77902600	Weak transcription	Osteobl	bone
5	chr1:77893800-77903600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:77894000-77895400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:77894000-77895400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:77894000-77897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:77894000-77897600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:77894200-77895400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:77894200-77895400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:77894200-77896400	Weak transcription	HSMM	muscle
13	chr1:77894200-77896400	Weak transcription	NHDF-Ad	bronchial
14	chr1:77894200-77896600	Weak transcription	HSMMtube	muscle
15	chr1:77894200-77896800	Weak transcription	Brain Anterior Caudate	brain
16	chr1:77894200-77905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:77894200-77912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:77894200-77912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:77895000-77896400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:77895000-77896600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:77895200-77895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:77895200-77896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:77895200-77896400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:77895200-77896600	Enhancers	Primary T cells from cord blood	blood
25	chr1:77895200-77896600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:77895200-77896600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:77895200-77898800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:77895200-77898800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:77895200-77899000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:77895200-77899400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:77895200-77901400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:77895400-77895600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:77895400-77896600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:77895400-77896800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:77895400-77897000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:77895400-77902000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:77895600-77895800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr1:77895600-77895800	Enhancers	Monocytes-CD14+_RO01746	blood

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