Variant report

Variant	esv2632878
Chromosome Location	chr1:75626269-75627743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141795656	chr1:75626284-75626285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147211894	chr1:75626328-75626329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558608334	chr1:75626362-75626363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527550803	chr1:75626363-75626364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183250525	chr1:75626367-75626368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547390677	chr1:75626368-75626369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187782211	chr1:75626379-75626380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555089498	chr1:75626407-75626408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140511711	chr1:75626413-75626414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2462955	chr1:75626420-75626421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192654253	chr1:75626423-75626424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371439334	chr1:75626443-75626444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528109780	chr1:75626444-75626445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371380208	chr1:75626469-75626470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375749767	chr1:75626483-75626484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571362636	chr1:75626500-75626501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368782371	chr1:75626551-75626552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377005651	chr1:75626559-75626560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543118500	chr1:75626574-75626575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs41306167	chr1:75626614-75626615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199821156	chr1:75626629-75626630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs41301265	chr1:75626631-75626632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536515663	chr1:75626647-75626648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555256876	chr1:75626648-75626649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184821578	chr1:75626678-75626679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533914157	chr1:75626688-75626689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558576715	chr1:75626696-75626697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187614610	chr1:75626775-75626776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544703542	chr1:75626783-75626784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556833068	chr1:75626833-75626834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374351080	chr1:75626853-75626854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575418313	chr1:75626867-75626868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192190181	chr1:75626890-75626891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542523510	chr1:75626924-75626925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142785057	chr1:75626944-75626945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184182933	chr1:75626997-75626998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147403016	chr1:75627058-75627059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190197837	chr1:75627144-75627145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4949795	chr1:75627156-75627157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377666437	chr1:75627197-75627198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550670629	chr1:75627228-75627229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538766244	chr1:75627253-75627254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562903447	chr1:75627270-75627271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530296440	chr1:75627300-75627301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1405310	chr1:75627328-75627329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529999008	chr1:75627346-75627347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200397256	chr1:75627354-75627355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55871932	chr1:75627366-75627367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373417736	chr1:75627367-75627368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566823645	chr1:75627422-75627423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75623000-75627200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:75625600-75626400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:75626200-75627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:75626200-75628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:75626400-75627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:75627400-75628600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:75627400-75628800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:75627600-75629000	Enhancers	HUES48 Cell Line	embryonic stem cell

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