Variant report

Variant	esv3318130
Chromosome Location	chr19:42117054-42119226
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	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:
2	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3909376	chr19:42117071-42117072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73562909	chr19:42117094-42117095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551182518	chr19:42117095-42117096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144188475	chr19:42117157-42117158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549025678	chr19:42117188-42117189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75829227	chr19:42117211-42117212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536172411	chr19:42117216-42117217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78766368	chr19:42117219-42117220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3909375	chr19:42117225-42117226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540072414	chr19:42117297-42117298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569087395	chr19:42117312-42117313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557963935	chr19:42117337-42117338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115585581	chr19:42117377-42117378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190712114	chr19:42117490-42117491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555364687	chr19:42117500-42117501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117337451	chr19:42117519-42117520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6508986	chr19:42117603-42117604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562844735	chr19:42117610-42117611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566033099	chr19:42117613-42117614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545221836	chr19:42117614-42117615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182045090	chr19:42117650-42117651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572505097	chr19:42117698-42117699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527403112	chr19:42117701-42117702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548964181	chr19:42117716-42117717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202228076	chr19:42117728-42117729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186421850	chr19:42117761-42117762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367777076	chr19:42117847-42117848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529545390	chr19:42117849-42117850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550989592	chr19:42117865-42117866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11879287	chr19:42117952-42117953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76796321	chr19:42117966-42117967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539631871	chr19:42117972-42117973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551981694	chr19:42118065-42118066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566599959	chr19:42118148-42118149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190638035	chr19:42118176-42118177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143481967	chr19:42118261-42118262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200493999	chr19:42118263-42118264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201148800	chr19:42118264-42118265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs33924334	chr19:42118265-42118266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4803486	chr19:42118318-42118319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3887109	chr19:42118423-42118424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200604139	chr19:42118479-42118480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536113026	chr19:42118480-42118481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555293076	chr19:42118523-42118524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147752786	chr19:42118538-42118539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538276439	chr19:42118546-42118547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549598880	chr19:42118559-42118560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544506582	chr19:42118561-42118562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556168247	chr19:42118575-42118576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59851932	chr19:42118576-42118577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42115400-42117200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:42117000-42117400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:42117000-42117800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr19:42117200-42121400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr19:42117400-42118600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr19:42117800-42118800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:42118200-42131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:42118400-42119400	Enhancers	Primary B cells from cord blood	blood
9	chr19:42118600-42119800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:42118800-42119600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr19:42118800-42125200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:42119200-42119400	Enhancers	Spleen	Spleen

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