Variant report

Variant	esv3441146
Chromosome Location	chr1:79313914-79318312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201368200	chr1:79313966-79313967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201964927	chr1:79314046-79314047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377649266	chr1:79314179-79314180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61768725	chr1:79314223-79314224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374516233	chr1:79314257-79314258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201510988	chr1:79314343-79314344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376888892	chr1:79314366-79314367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61768727	chr1:79314393-79314394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373807596	chr1:79314650-79314651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200431702	chr1:79314762-79314763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370466192	chr1:79314786-79314787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199622073	chr1:79314787-79314788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12023092	chr1:79315103-79315104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368381876	chr1:79315175-79315176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7367815	chr1:79315368-79315369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184607559	chr1:79315419-79315420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559871596	chr1:79315453-79315454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533367956	chr1:79315493-79315494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199647133	chr1:79315719-79315720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541390093	chr1:79315739-79315740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188784365	chr1:79315895-79315896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201777267	chr1:79316110-79316111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12026708	chr1:79316446-79316447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375095172	chr1:79316463-79316464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368796937	chr1:79316511-79316512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372756474	chr1:79316534-79316535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375092113	chr1:79316547-79316548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368985924	chr1:79316555-79316556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372087911	chr1:79316598-79316599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376744297	chr1:79316718-79316719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369644855	chr1:79316741-79316742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374219517	chr1:79316748-79316749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377309183	chr1:79316758-79316759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4477224	chr1:79316787-79316788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530727986	chr1:79316791-79316792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530790798	chr1:79316795-79316796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548999270	chr1:79316797-79316798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370045078	chr1:79316808-79316809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4278328	chr1:79316811-79316812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528557285	chr1:79316812-79316813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376210507	chr1:79316833-79316834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370051492	chr1:79316843-79316844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137934526	chr1:79316855-79316856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374065066	chr1:79316867-79316868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4515744	chr1:79316875-79316876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370405820	chr1:79316890-79316891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150662791	chr1:79316891-79316892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569205262	chr1:79316905-79316906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536238379	chr1:79316911-79316912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4518849	chr1:79316929-79316930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79307400-79317200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:79317200-79317400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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