Variant report

Variant	esv1813624
Chromosome Location	chr1:77148488-77153796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:77152003..77153806-chr1:77226748..77229399,2	MCF-7	breast:
2	chr1:77147990..77150135-chr1:77152468..77154920,2	MCF-7	breast:
3	chr1:77147990..77150135-chr1:77152468..77154920,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138993521	chr1:77152407-77152408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539904646	chr1:77152447-77152448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564571628	chr1:77152524-77152525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576404610	chr1:77152543-77152544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144170627	chr1:77152573-77152574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188452508	chr1:77152583-77152584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563030452	chr1:77152615-77152616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530378124	chr1:77152692-77152693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542059153	chr1:77152721-77152722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181010323	chr1:77152722-77152723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527803290	chr1:77152739-77152740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569786907	chr1:77152758-77152759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552690711	chr1:77152790-77152791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146029657	chr1:77152848-77152849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538806763	chr1:77152849-77152850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552238584	chr1:77152853-77152854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185032687	chr1:77152857-77152858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs681968	chr1:77152862-77152863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs569069137	chr1:77152869-77152870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536501880	chr1:77152880-77152881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs681551	chr1:77152920-77152921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557363504	chr1:77152936-77152937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34458656	chr1:77152940-77152941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533668721	chr1:77152992-77152993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554972802	chr1:77153035-77153036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189556935	chr1:77153134-77153135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139933941	chr1:77153211-77153212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371931200	chr1:77153228-77153229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576469071	chr1:77153235-77153236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543872823	chr1:77153262-77153263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143359378	chr1:77153263-77153264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10873900	chr1:77153271-77153272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377351224	chr1:77153306-77153307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370363388	chr1:77153374-77153375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542474021	chr1:77153393-77153394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369565084	chr1:77153423-77153424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145548130	chr1:77153526-77153527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574097647	chr1:77153527-77153528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546366411	chr1:77153538-77153539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs491408	chr1:77153592-77153593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531802287	chr1:77153638-77153639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557403483	chr1:77153688-77153689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543078475	chr1:77153752-77153753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568416864	chr1:77153764-77153765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184060391	chr1:77153765-77153766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79879519	chr1:77153766-77153767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548440999	chr1:77153767-77153768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77152400-77154200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:77152600-77153800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:77152800-77153600	Enhancers	Fetal Kidney	kidney
4	chr1:77153000-77154200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:77153200-77153400	Enhancers	Aorta	Aorta
6	chr1:77153200-77153400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:77153400-77153600	Enhancers	Fetal Lung	lung
8	chr1:77153600-77156800	Weak transcription	Aorta	Aorta

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