Variant report

Variant	esv990421
Chromosome Location	chr19:40386080-40401025
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	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:

Extended variants
information (count: 456 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145867116	chr19:40386097-40386098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138485873	chr19:40386098-40386099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553163082	chr19:40386303-40386304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574824444	chr19:40386305-40386306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113117839	chr19:40386321-40386322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542140524	chr19:40386503-40386504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561295659	chr19:40386597-40386598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531717040	chr19:40386696-40386697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56138831	chr19:40386719-40386720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565400968	chr19:40386721-40386722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75082872	chr19:40386850-40386851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538907111	chr19:40386901-40386902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111516359	chr19:40386904-40386905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113095487	chr19:40386949-40386950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547980592	chr19:40387025-40387026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200664245	chr19:40387168-40387169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2082491	chr19:40387288-40387289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565927905	chr19:40387308-40387309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2019307	chr19:40387356-40387357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569176025	chr19:40387380-40387381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536572704	chr19:40387408-40387409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2019318	chr19:40387414-40387415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554498723	chr19:40387423-40387424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548455786	chr19:40387434-40387435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2019322	chr19:40387485-40387486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113890102	chr19:40387672-40387673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142303766	chr19:40387971-40387972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537069968	chr19:40388080-40388081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145177276	chr19:40388108-40388109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200877881	chr19:40388109-40388110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558220266	chr19:40388135-40388136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145066124	chr19:40388136-40388137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570537377	chr19:40388181-40388182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534408481	chr19:40388189-40388190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553250788	chr19:40388197-40388198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150550897	chr19:40388204-40388205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574664819	chr19:40388233-40388234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572912188	chr19:40388245-40388246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542181095	chr19:40388290-40388291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28555472	chr19:40388294-40388295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575421677	chr19:40388295-40388296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543804779	chr19:40388296-40388297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28377854	chr19:40388305-40388306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527800818	chr19:40388331-40388332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377622618	chr19:40388332-40388333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565096394	chr19:40388370-40388371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144510741	chr19:40388388-40388389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59086787	chr19:40388390-40388391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs60449898	chr19:40388391-40388392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs559553591	chr19:40388408-40388409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
3	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
5	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
6	chr19:40388200-40389600	Enhancers	HepG2	liver
7	chr19:40388400-40388800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:40388400-40388800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:40388400-40388800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr19:40388400-40388800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:40389400-40389800	Enhancers	Fetal Muscle Trunk	muscle
13	chr19:40389600-40391200	Weak transcription	HepG2	liver
14	chr19:40391000-40392000	Strong transcription	Fetal Intestine Small	intestine
15	chr19:40391200-40393000	Enhancers	HepG2	liver
16	chr19:40392000-40402800	Weak transcription	Fetal Intestine Small	intestine
17	chr19:40393000-40393200	Flanking Active TSS	HepG2	liver
18	chr19:40393000-40393800	Enhancers	Fetal Intestine Large	intestine
19	chr19:40393200-40393600	Enhancers	HepG2	liver
20	chr19:40393600-40393800	Active TSS	HepG2	liver
21	chr19:40393800-40404000	Weak transcription	Fetal Intestine Large	intestine
22	chr19:40396400-40404400	Weak transcription	Stomach Mucosa	stomach
23	chr19:40397400-40397800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:40397600-40397800	Weak transcription	Spleen	Spleen
25	chr19:40397600-40398000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:40397800-40398000	Enhancers	Fetal Muscle Trunk	muscle
27	chr19:40397800-40398000	Enhancers	Spleen	Spleen
28	chr19:40398000-40398800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:40398000-40402800	Weak transcription	Spleen	Spleen
30	chr19:40398000-40404000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:40399000-40399200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:40399000-40399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:40399000-40399200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr19:40399000-40399200	Enhancers	Fetal Muscle Trunk	muscle
35	chr19:40399200-40399400	Active TSS	Primary T cells fromperipheralblood	blood
36	chr19:40399200-40403800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:40399200-40404000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:40399200-40411800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:40399400-40403800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:40400200-40410600	Weak transcription	Fetal Stomach	stomach

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