Variant report

Variant	esv2519231
Chromosome Location	chr1:57094847-57096371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57089572..57092375-chr1:57094756..57097462,2	K562	blood:
2	chr1:57093284..57096494-chr1:57097572..57100834,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550756525	chr1:57094893-57094894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189099524	chr1:57094921-57094922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541382221	chr1:57094988-57094989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181864808	chr1:57095003-57095004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527366163	chr1:57095025-57095026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148271636	chr1:57095026-57095027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557618107	chr1:57095031-57095032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12032377	chr1:57095041-57095042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187331169	chr1:57095062-57095063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369670891	chr1:57095074-57095075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189404700	chr1:57095094-57095095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35060997	chr1:57095109-57095110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11206880	chr1:57095133-57095134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs371821648	chr1:57095149-57095150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10888996	chr1:57095174-57095175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548244325	chr1:57095182-57095183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568562258	chr1:57095195-57095196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386631430	chr1:57095200-57095201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12046428	chr1:57095201-57095202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7551675	chr1:57095235-57095236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539635349	chr1:57095265-57095266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61774286	chr1:57095281-57095282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556448394	chr1:57095286-57095287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180933613	chr1:57095287-57095288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576282540	chr1:57095304-57095305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78050034	chr1:57095307-57095308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77432048	chr1:57095309-57095310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541445088	chr1:57095379-57095380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369566753	chr1:57095405-57095406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529380318	chr1:57095423-57095424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144378906	chr1:57095433-57095434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555793361	chr1:57095446-57095447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186410632	chr1:57095454-57095455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540794879	chr1:57095469-57095470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564207443	chr1:57095523-57095524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376304676	chr1:57095528-57095529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533204550	chr1:57095580-57095581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191186113	chr1:57095588-57095589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5774296	chr1:57095687-57095688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397701371	chr1:57095688-57095689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563581227	chr1:57095703-57095704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529175998	chr1:57095704-57095705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530609025	chr1:57095731-57095732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548580385	chr1:57095737-57095738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568398472	chr1:57095741-57095742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201878136	chr1:57095768-57095769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527665582	chr1:57095779-57095780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547614797	chr1:57095780-57095781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111782032	chr1:57095801-57095802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539648917	chr1:57095805-57095806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57092400-57098800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:57092600-57098200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:57093600-57098200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:57093600-57098200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:57093800-57096000	Weak transcription	Hela-S3	cervix
6	chr1:57096000-57098400	Enhancers	Hela-S3	cervix

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