Variant report

Variant	esv3443763
Chromosome Location	chr1:153260065-153262463
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	chr1:152842102..152843011-chr1:153260862..153261761,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184887319	chr1:153260219-153260220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527751938	chr1:153260245-153260246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547781286	chr1:153260260-153260261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552099337	chr1:153260291-153260292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544939975	chr1:153260332-153260333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149059080	chr1:153260381-153260382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529975460	chr1:153260400-153260401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549646750	chr1:153260435-153260436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536462474	chr1:153260496-153260497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551077155	chr1:153260526-153260527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143055831	chr1:153260533-153260534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201529212	chr1:153260541-153260542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558432682	chr1:153260549-153260550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61179014	chr1:153260550-153260551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189442251	chr1:153260571-153260572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192174330	chr1:153260592-153260593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574477046	chr1:153260608-153260609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201266541	chr1:153260635-153260636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397860960	chr1:153260649-153260650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536981041	chr1:153260652-153260653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2916238	chr1:153260711-153260712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs576635497	chr1:153260844-153260845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374893232	chr1:153260847-153260848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545601893	chr1:153260853-153260854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183632229	chr1:153260875-153260876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572507897	chr1:153260968-153260969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565688486	chr1:153260991-153260992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4845536	chr1:153261013-153261014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189222500	chr1:153261059-153261060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140217313	chr1:153261095-153261096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553932180	chr1:153261119-153261120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376356602	chr1:153261124-153261125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530012217	chr1:153261202-153261203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549734579	chr1:153261223-153261224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74621825	chr1:153261227-153261228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115645648	chr1:153261253-153261254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552350682	chr1:153261254-153261255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374724998	chr1:153261288-153261289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145909089	chr1:153261316-153261317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548291907	chr1:153261328-153261329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568090978	chr1:153261372-153261373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148443020	chr1:153261382-153261383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537067776	chr1:153261399-153261400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556965371	chr1:153261458-153261459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181923402	chr1:153261475-153261476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538918562	chr1:153261515-153261516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370642062	chr1:153261545-153261546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78190725	chr1:153261551-153261552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529457504	chr1:153261575-153261576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2570445	chr1:153261642-153261643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153253000-153260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:153258400-153261400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:153258800-153260600	Weak transcription	NHEK	skin
4	chr1:153259400-153261400	Enhancers	Esophagus	oesophagus
5	chr1:153259600-153260800	Weak transcription	HMEC	breast
6	chr1:153260600-153261200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:153260600-153261200	Enhancers	NHEK	skin
8	chr1:153260600-153261400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:153260800-153261000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:153260800-153261200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:153260800-153261200	Enhancers	Placenta	Placenta
12	chr1:153260800-153261200	Enhancers	Stomach Mucosa	stomach
13	chr1:153260800-153261400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:153260800-153261400	Enhancers	HMEC	breast
15	chr1:153260800-153261600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:153261000-153261400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:153261200-153263400	Weak transcription	NHEK	skin
18	chr1:153261200-153263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:153261200-153264000	Weak transcription	Placenta	Placenta
20	chr1:153261200-153264600	Weak transcription	Stomach Mucosa	stomach
21	chr1:153261400-153261800	Weak transcription	Esophagus	oesophagus
22	chr1:153261400-153263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:153261400-153263400	Weak transcription	HMEC	breast
24	chr1:153261400-153263600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:153261400-153263800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:153261400-153269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:153261600-153262000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:153261800-153262000	Enhancers	Esophagus	oesophagus
29	chr1:153262000-153262800	Weak transcription	Esophagus	oesophagus
30	chr1:153262000-153266200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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