Variant report

Variant	esv2562695
Chromosome Location	chr1:56126142-56134151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 481 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564453939	chr1:56126218-56126219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112401786	chr1:56126237-56126238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182813082	chr1:56126269-56126270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186380325	chr1:56126273-56126274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531353079	chr1:56126331-56126332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367766146	chr1:56126351-56126352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140682867	chr1:56126371-56126372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3070317	chr1:56126372-56126373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144481115	chr1:56126376-56126377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373943907	chr1:56126377-56126378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527310707	chr1:56126379-56126380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528443084	chr1:56126431-56126432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148410713	chr1:56126441-56126442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571091458	chr1:56126451-56126452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568537523	chr1:56126460-56126461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191235905	chr1:56126463-56126464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559128392	chr1:56126513-56126514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182644936	chr1:56126560-56126561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535907261	chr1:56126566-56126567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151021375	chr1:56126576-56126577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548389086	chr1:56126591-56126592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535048909	chr1:56126595-56126596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187727904	chr1:56126605-56126606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374555995	chr1:56126646-56126647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142273268	chr1:56126652-56126653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144471917	chr1:56126653-56126654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556037683	chr1:56126717-56126718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575841811	chr1:56126727-56126728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147827264	chr1:56126729-56126730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76966571	chr1:56126742-56126743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141301875	chr1:56126752-56126753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193133311	chr1:56126759-56126760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564796007	chr1:56126777-56126778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537266766	chr1:56126839-56126840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10888938	chr1:56126846-56126847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545555789	chr1:56126868-56126869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146601314	chr1:56126923-56126924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183157379	chr1:56126933-56126934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138788592	chr1:56126944-56126945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549478388	chr1:56127040-56127041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531546703	chr1:56127062-56127063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566214143	chr1:56127109-56127110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2175861	chr1:56127171-56127172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575583426	chr1:56127216-56127217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571619709	chr1:56127227-56127228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539314123	chr1:56127237-56127238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187519029	chr1:56127253-56127254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192140616	chr1:56127274-56127275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113802906	chr1:56127301-56127302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555033973	chr1:56127352-56127353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	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
Gastric adenocarcinoma	19115996	CNVD
Parathyroid adenoma	22454399	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56124200-56128000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:56125000-56128000	Weak transcription	Fetal Lung	lung
3	chr1:56128000-56130000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr1:56128800-56129600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links