Variant report

Variant	esv1809294
Chromosome Location	chr1:75287612-75320261
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	chr1:75291356..75293421-chr1:75294072..75296682,2	K562	blood:
2	chr1:75291356..75293421-chr1:75294072..75296682,2	K562	blood:

Extended variants
information (count: 263 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1327097	chr1:75287612-75287613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565012833	chr1:75287670-75287671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373209452	chr1:75287676-75287677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35329066	chr1:75287682-75287683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376214203	chr1:75287725-75287726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556345317	chr1:75287730-75287731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141446085	chr1:75287739-75287740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544252374	chr1:75287792-75287793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561466027	chr1:75287839-75287840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201905347	chr1:75287859-75287860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5775266	chr1:75287861-75287862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201378202	chr1:75287879-75287880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202199279	chr1:75287880-75287881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541752040	chr1:75287881-75287882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5775267	chr1:75287886-75287887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200650102	chr1:75287887-75287888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182588336	chr1:75287891-75287892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56692162	chr1:75287908-75287909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548191659	chr1:75287943-75287944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs277362	chr1:75287944-75287945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs187946783	chr1:75287989-75287990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541382485	chr1:75288036-75288037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551941142	chr1:75288054-75288055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146997435	chr1:75288058-75288059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561150849	chr1:75288122-75288123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548613601	chr1:75288136-75288137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs277361	chr1:75288167-75288168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs277360	chr1:75288180-75288181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535793475	chr1:75288189-75288190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190655589	chr1:75288202-75288203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184096448	chr1:75288260-75288261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540071946	chr1:75288267-75288268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558361838	chr1:75288319-75288320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34827211	chr1:75288379-75288380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376342348	chr1:75288412-75288413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115575524	chr1:75288428-75288429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202135922	chr1:75288466-75288467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544339473	chr1:75288521-75288522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562557819	chr1:75288523-75288524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147640277	chr1:75288536-75288537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142209745	chr1:75288549-75288550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188599995	chr1:75288555-75288556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527562367	chr1:75288578-75288579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192481764	chr1:75288579-75288580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563957397	chr1:75288621-75288622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531365653	chr1:75288687-75288688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116809690	chr1:75288695-75288696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568535627	chr1:75288712-75288713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535518493	chr1:75288773-75288774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547753372	chr1:75288791-75288792	Enhancers	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75285200-75288600	Weak transcription	Fetal Lung	lung
2	chr1:75288600-75289000	Enhancers	Fetal Lung	lung
3	chr1:75290000-75291000	Enhancers	GM12878-XiMat	blood
4	chr1:75294400-75295600	Enhancers	Fetal Heart	heart
5	chr1:75294400-75298200	Enhancers	Fetal Lung	lung
6	chr1:75295600-75298600	Weak transcription	Fetal Heart	heart
7	chr1:75296800-75297000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:75296800-75297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:75298200-75300000	Weak transcription	Fetal Lung	lung
10	chr1:75298600-75300400	Enhancers	Fetal Heart	heart
11	chr1:75299800-75300800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:75300000-75301000	Enhancers	Fetal Lung	lung
13	chr1:75300400-75300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:75300800-75301000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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