Variant report

Variant	esv3372619
Chromosome Location	chr1:85451989-85454537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374615344	chr1:85451989-85451990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568622668	chr1:85452021-85452022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6692907	chr1:85452022-85452023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6704051	chr1:85452087-85452088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576962622	chr1:85452095-85452096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574155679	chr1:85452123-85452124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556194519	chr1:85452133-85452134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370435882	chr1:85452143-85452144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113762127	chr1:85452152-85452153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138708484	chr1:85452157-85452158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542094593	chr1:85452158-85452159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555341336	chr1:85452171-85452172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572227699	chr1:85452180-85452181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111343069	chr1:85452199-85452200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570093444	chr1:85452227-85452228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111500652	chr1:85452275-85452276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192131727	chr1:85452278-85452279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184032748	chr1:85452280-85452281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560694908	chr1:85452299-85452300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529403383	chr1:85452332-85452333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34035736	chr1:85452353-85452354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549539324	chr1:85452379-85452380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560645139	chr1:85452394-85452395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372304839	chr1:85452412-85452413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545838625	chr1:85452452-85452453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562520085	chr1:85452456-85452457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531914306	chr1:85452463-85452464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569260945	chr1:85452509-85452510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568629549	chr1:85452563-85452564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527887353	chr1:85452573-85452574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12042910	chr1:85452580-85452581	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115443383	chr1:85452650-85452651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142768781	chr1:85452708-85452709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556231219	chr1:85452733-85452734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116773940	chr1:85452737-85452738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535080096	chr1:85452750-85452751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555638549	chr1:85452759-85452760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551504715	chr1:85452776-85452777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150293583	chr1:85452780-85452781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541260935	chr1:85452796-85452797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557526884	chr1:85452820-85452821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147321929	chr1:85452860-85452861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12029690	chr1:85452867-85452868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140643975	chr1:85452884-85452885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60824246	chr1:85452889-85452890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79075979	chr1:85452891-85452892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138088137	chr1:85452892-85452893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11799767	chr1:85452893-85452894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11799768	chr1:85452895-85452896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562607469	chr1:85452896-85452897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85440400-85454000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:85441200-85460200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:85450800-85454800	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:85451400-85452000	Weak transcription	GM12878-XiMat	blood
5	chr1:85452000-85452800	Enhancers	GM12878-XiMat	blood
6	chr1:85452400-85452600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:85452400-85452600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:85452600-85452800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:85452600-85453600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:85452800-85453800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:85452800-85453800	Weak transcription	GM12878-XiMat	blood
12	chr1:85453600-85454400	Enhancers	Primary B cells from cord blood	blood
13	chr1:85453600-85454800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:85453800-85454200	Enhancers	GM12878-XiMat	blood
15	chr1:85453800-85454800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:85453800-85454800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:85453800-85454800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:85453800-85454800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:85453800-85455000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:85454000-85454800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:85454000-85454800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:85454000-85454800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:85454000-85454800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:85454000-85455200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:85454200-85454400	Enhancers	Primary T cells from cord blood	blood
26	chr1:85454200-85454600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:85454200-85454600	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:85454200-85454600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:85454200-85454800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:85454200-85454800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:85454200-85454800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:85454200-85454800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:85454200-85454800	Enhancers	Spleen	Spleen
34	chr1:85454200-85455200	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:85454400-85454600	Bivalent Enhancer	Primary T cells from cord blood	blood
36	chr1:85454400-85454800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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