Variant report

Variant	esv3451595
Chromosome Location	chr1:79172264-79174212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369553486	chr1:79172284-79172285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555763897	chr1:79172371-79172372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574527858	chr1:79172427-79172428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139062902	chr1:79172430-79172431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560294745	chr1:79172433-79172434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528671479	chr1:79172438-79172439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58993850	chr1:79172461-79172462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs565500608	chr1:79172469-79172470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532689387	chr1:79172498-79172499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372422779	chr1:79172541-79172542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11162539	chr1:79172621-79172622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs188057294	chr1:79172697-79172698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536248588	chr1:79172704-79172705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370936189	chr1:79172716-79172717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180737666	chr1:79172717-79172718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566640053	chr1:79172744-79172745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11162540	chr1:79172751-79172752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs377057285	chr1:79172755-79172756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541169698	chr1:79172759-79172760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569267534	chr1:79172764-79172765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143976640	chr1:79172779-79172780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556508132	chr1:79172798-79172799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111703560	chr1:79172808-79172809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185139223	chr1:79172809-79172810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553834227	chr1:79172837-79172838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189942003	chr1:79172878-79172879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548618903	chr1:79172905-79172906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139509704	chr1:79172911-79172912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565326766	chr1:79172915-79172916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538330354	chr1:79172936-79172937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147239740	chr1:79172939-79172940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35308498	chr1:79172941-79172942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149704509	chr1:79172957-79172958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11162541	chr1:79172974-79172975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs530002187	chr1:79173000-79173001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183283765	chr1:79173044-79173045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201895561	chr1:79173055-79173056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12409781	chr1:79173111-79173112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs527782573	chr1:79173156-79173157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367932458	chr1:79173159-79173160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552681298	chr1:79173184-79173185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570514684	chr1:79173195-79173196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200501969	chr1:79173304-79173305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538050635	chr1:79173340-79173341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556471443	chr1:79173368-79173369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568381817	chr1:79173376-79173377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58150654	chr1:79173389-79173390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs553797317	chr1:79173403-79173404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7528969	chr1:79173431-79173432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs58945140	chr1:79173436-79173437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:102)

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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79171600-79176000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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