Variant report

Variant	esv3386987
Chromosome Location	chr1:192819539-192821168
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	chr1:192818527..192820522-chr1:192821940..192823525,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6428139	chr1:192819541-192819542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531798166	chr1:192819595-192819596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548717297	chr1:192819598-192819599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61821630	chr1:192819615-192819616	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141792939	chr1:192819626-192819627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372013832	chr1:192819747-192819748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540908675	chr1:192819749-192819750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369429379	chr1:192819754-192819755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570885565	chr1:192819761-192819762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539838535	chr1:192819774-192819775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556734202	chr1:192819839-192819840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373193838	chr1:192819848-192819849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143707928	chr1:192819886-192819887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555507405	chr1:192819887-192819888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187481525	chr1:192819919-192819920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528365486	chr1:192819953-192819954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs844529	chr1:192820049-192820050	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557628865	chr1:192820075-192820076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577260205	chr1:192820076-192820077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542974574	chr1:192820126-192820127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544186124	chr1:192820135-192820136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528927773	chr1:192820155-192820156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs842924	chr1:192820182-192820183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562340179	chr1:192820207-192820208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148121244	chr1:192820247-192820248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141832550	chr1:192820254-192820255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571148197	chr1:192820255-192820256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567631486	chr1:192820285-192820286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374214447	chr1:192820289-192820290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533371195	chr1:192820300-192820301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550150539	chr1:192820346-192820347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570182254	chr1:192820390-192820391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150607657	chr1:192820401-192820402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532891711	chr1:192820483-192820484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533054702	chr1:192820502-192820503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565916011	chr1:192820544-192820545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371776605	chr1:192820547-192820548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551212682	chr1:192820555-192820556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560279617	chr1:192820566-192820567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112703697	chr1:192820613-192820614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534510102	chr1:192820639-192820640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539830320	chr1:192820663-192820664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557641000	chr1:192820665-192820666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527461074	chr1:192820676-192820677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192725398	chr1:192820721-192820722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536670930	chr1:192820733-192820734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560134786	chr1:192820778-192820779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201526414	chr1:192820839-192820840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556503597	chr1:192820853-192820854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57235619	chr1:192820861-192820862	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192817000-192819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:192817600-192821200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:192819200-192820600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:192819200-192821400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:192819800-192820000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:192820000-192820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:192820200-192820600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:192820400-192820800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:192820400-192820800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:192820400-192821000	Enhancers	Fetal Kidney	kidney
11	chr1:192820400-192821000	Enhancers	HepG2	liver
12	chr1:192820800-192821400	Enhancers	Brain Germinal Matrix	brain

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