Variant report

Variant	esv33840
Chromosome Location	chr19:40663439-40669337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140338405	chr19:40663470-40663471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8111518	chr19:40663487-40663488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77654200	chr19:40663557-40663558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79139847	chr19:40663558-40663559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58295377	chr19:40663588-40663589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188244475	chr19:40663601-40663602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535236275	chr19:40663624-40663625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553079141	chr19:40663655-40663656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568165756	chr19:40663664-40663665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575926397	chr19:40663676-40663677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535232380	chr19:40663690-40663691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111229006	chr19:40663742-40663743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1865082	chr19:40663772-40663773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200115387	chr19:40663833-40663834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200243621	chr19:40663842-40663843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200872812	chr19:40663843-40663844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79116880	chr19:40663869-40663870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561597463	chr19:40663895-40663896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528493319	chr19:40663933-40663934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540664593	chr19:40663943-40663944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565147432	chr19:40663975-40663976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572673038	chr19:40663989-40663990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540053426	chr19:40664141-40664142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532589963	chr19:40664158-40664159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs526467	chr19:40664162-40664163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11394776	chr19:40664185-40664186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530185846	chr19:40664197-40664198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560917875	chr19:40664226-40664227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529861272	chr19:40664227-40664228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs649239	chr19:40664248-40664249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150694070	chr19:40664272-40664273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374731151	chr19:40664423-40664424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530654640	chr19:40664430-40664431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530822016	chr19:40664521-40664522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184084626	chr19:40664535-40664536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552858687	chr19:40664544-40664545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531169543	chr19:40664549-40664550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564793688	chr19:40664616-40664617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528665316	chr19:40664662-40664663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551948160	chr19:40664686-40664687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs636313	chr19:40664759-40664760	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568589210	chr19:40664786-40664787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535534040	chr19:40664799-40664800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62106625	chr19:40664817-40664818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73042605	chr19:40664838-40664839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73042607	chr19:40664847-40664848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187318606	chr19:40664854-40664855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73553618	chr19:40664860-40664861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191815581	chr19:40664866-40664867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184119366	chr19:40664887-40664888	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
Lung cancer	21569311	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
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40654200-40673400	Weak transcription	Right Atrium	heart
2	chr19:40659600-40667400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:40659600-40667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:40661000-40663800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:40661000-40667400	Weak transcription	Primary B cells from cord blood	blood
6	chr19:40662000-40667600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:40662000-40667600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:40662200-40663600	Weak transcription	HepG2	liver
9	chr19:40662200-40667800	Weak transcription	GM12878-XiMat	blood
10	chr19:40662600-40667600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:40662800-40665000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:40663200-40668600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:40663600-40666200	Enhancers	HepG2	liver
14	chr19:40663800-40667400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:40665000-40665400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:40665400-40669400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr19:40665600-40666400	Enhancers	Ovary	ovary
18	chr19:40666200-40667600	Weak transcription	HepG2	liver
19	chr19:40667400-40670200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:40667400-40671800	Enhancers	Primary B cells from cord blood	blood
21	chr19:40667400-40671800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:40667600-40668000	Enhancers	HepG2	liver
23	chr19:40667600-40670000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr19:40667600-40670200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr19:40667600-40670200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:40667600-40670600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:40667600-40671800	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:40667800-40668000	Enhancers	GM12878-XiMat	blood
29	chr19:40668000-40668400	Weak transcription	GM12878-XiMat	blood
30	chr19:40668000-40676800	Weak transcription	HepG2	liver
31	chr19:40668200-40670000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:40668400-40671800	Enhancers	GM12878-XiMat	blood
33	chr19:40668600-40670000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:40668600-40670000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr19:40668600-40670400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr19:40668800-40669400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:40668800-40669800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:40668800-40670000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr19:40669000-40669200	Enhancers	HSMM	muscle
40	chr19:40669200-40669800	Enhancers	A549	lung
41	chr19:40669200-40670000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr19:40669200-40671600	Enhancers	Primary monocytes fromperipheralblood	blood

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