Variant report

Variant	esv3380905
Chromosome Location	chr1:79878980-79897522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs188973139	chr1:79878984-79878985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558704058	chr1:79879041-79879042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143542929	chr1:79879087-79879088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148025246	chr1:79879120-79879121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181727650	chr1:79879153-79879154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77682523	chr1:79879186-79879187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187506531	chr1:79879196-79879197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542981702	chr1:79879197-79879198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555129964	chr1:79879202-79879203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573373596	chr1:79879212-79879213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190651704	chr1:79879265-79879266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181032840	chr1:79879317-79879318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539448503	chr1:79879324-79879325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552994590	chr1:79879333-79879334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544193073	chr1:79879341-79879342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370220402	chr1:79879358-79879359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562591265	chr1:79879378-79879379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529984528	chr1:79879379-79879380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548201698	chr1:79879425-79879426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573180996	chr1:79879462-79879463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560263538	chr1:79879493-79879494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186268359	chr1:79879496-79879497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142192302	chr1:79879544-79879545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3015107	chr1:79879553-79879554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537984496	chr1:79879566-79879567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549781950	chr1:79879628-79879629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191612576	chr1:79879678-79879679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183017921	chr1:79879681-79879682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554985766	chr1:79879695-79879696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554301852	chr1:79879698-79879699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575764299	chr1:79879708-79879709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187390498	chr1:79879723-79879724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150600189	chr1:79879754-79879755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558768831	chr1:79879803-79879804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146069337	chr1:79879809-79879810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190656532	chr1:79879846-79879847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374539073	chr1:79879849-79879850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138939576	chr1:79879870-79879871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574759115	chr1:79879892-79879893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs142693563	chr1:79879921-79879922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183287240	chr1:79879926-79879927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150731502	chr1:79879927-79879928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12084294	chr1:79879929-79879930	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564300735	chr1:79879980-79879981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs367871750	chr1:79880031-79880032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112575145	chr1:79880033-79880034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568020086	chr1:79880046-79880047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs61767574	chr1:79880050-79880051	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs3000179	chr1:79880080-79880081	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149493615	chr1:79880089-79880090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79877400-79879800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:79879800-79880400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:79892000-79892400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:79895400-79895600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:79896400-79898600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:79897200-79897400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:79897200-79897800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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