Variant report

Variant	esv3368503
Chromosome Location	chr1:194188279-194190177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570489516	chr1:194188281-194188282	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576073305	chr1:194188333-194188334	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370698281	chr1:194188354-194188355	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189222241	chr1:194188392-194188393	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146391356	chr1:194188404-194188405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs302257	chr1:194188418-194188419	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373813939	chr1:194188431-194188432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139383574	chr1:194188437-194188438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181923289	chr1:194188467-194188468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555192879	chr1:194188519-194188520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573714831	chr1:194188525-194188526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75758568	chr1:194188544-194188545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79424175	chr1:194188545-194188546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533011238	chr1:194188634-194188635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543439942	chr1:194188647-194188648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185708574	chr1:194188654-194188655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9793426	chr1:194188692-194188693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190993	chr1:194188716-194188717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs167313	chr1:194188722-194188723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549384571	chr1:194188723-194188724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201134101	chr1:194188735-194188736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150030355	chr1:194188760-194188761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372460921	chr1:194188769-194188770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191603924	chr1:194188803-194188804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550395687	chr1:194188806-194188807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181365498	chr1:194188814-194188815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145277543	chr1:194188819-194188820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367690975	chr1:194188822-194188823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553545251	chr1:194188911-194188912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566434981	chr1:194188975-194188976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200337534	chr1:194188993-194188994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533533466	chr1:194188995-194188996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199687470	chr1:194189000-194189001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201124200	chr1:194189003-194189004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144416421	chr1:194189004-194189005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398103534	chr1:194189005-194189006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371785159	chr1:194189015-194189016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34857818	chr1:194189024-194189025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557861856	chr1:194189034-194189035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555899315	chr1:194189075-194189076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369922157	chr1:194189090-194189091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569908149	chr1:194189131-194189132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577429428	chr1:194189174-194189175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544874054	chr1:194189224-194189225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560163321	chr1:194189313-194189314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369541120	chr1:194189340-194189341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542648909	chr1:194189368-194189369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561381690	chr1:194189382-194189383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9662046	chr1:194189385-194189386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550307748	chr1:194189401-194189402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194159400-194195200	Weak transcription	Thymus	Thymus
2	chr1:194176000-194189200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:194184000-194195400	Weak transcription	Fetal Thymus	thymus
4	chr1:194187000-194194600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:194188000-194188400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:194188200-194188400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:194188400-194188800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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