Variant report

Variant	esv3342949
Chromosome Location	chr1:221175289-221176041
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	chr1:221173578..221175565-chr1:221175973..221177648,2	K562	blood:
2	chr1:221173578..221175565-chr1:221175973..221177648,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535626015	chr1:221175289-221175290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59377620	chr1:221175329-221175330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369129501	chr1:221175368-221175369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372306313	chr1:221175369-221175370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201581765	chr1:221175371-221175372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555557468	chr1:221175378-221175379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57143339	chr1:221175381-221175382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138973302	chr1:221175417-221175418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377310426	chr1:221175418-221175419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184775935	chr1:221175435-221175436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201175619	chr1:221175442-221175443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201521591	chr1:221175450-221175451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539848389	chr1:221175480-221175481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556558982	chr1:221175482-221175483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570008599	chr1:221175485-221175486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535363289	chr1:221175492-221175493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555569047	chr1:221175500-221175501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201795228	chr1:221175513-221175514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550722333	chr1:221175527-221175528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569149245	chr1:221175529-221175530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572160378	chr1:221175538-221175539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541190623	chr1:221175539-221175540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200478949	chr1:221175553-221175554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7552142	chr1:221175564-221175565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115201313	chr1:221175566-221175567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147842361	chr1:221175583-221175584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371126927	chr1:221175589-221175590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71812295	chr1:221175590-221175591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140677957	chr1:221175597-221175598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200066415	chr1:221175618-221175619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201014867	chr1:221175626-221175627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201715051	chr1:221175628-221175629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36110683	chr1:221175634-221175635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548307413	chr1:221175670-221175671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12406091	chr1:221175680-221175681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113881347	chr1:221175696-221175697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539848942	chr1:221175710-221175711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562941421	chr1:221175728-221175729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386639616	chr1:221175736-221175737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200774249	chr1:221175763-221175764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377281671	chr1:221175777-221175778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532059843	chr1:221175788-221175789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372711099	chr1:221175814-221175815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542145216	chr1:221175824-221175825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200813136	chr1:221175833-221175834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186309953	chr1:221175840-221175841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578180771	chr1:221175847-221175848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554078643	chr1:221175857-221175858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554105810	chr1:221175859-221175860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371824922	chr1:221175862-221175863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221172600-221175400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:221174600-221175400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:221174600-221175400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:221174800-221176400	Weak transcription	Left Ventricle	heart

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