Variant report

Variant	nsv528831
Chromosome Location	chr19:40665924-40684919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40677692..40680136-chr19:40719454..40721512,2	K562	blood:
2	chr19:40684807..40686349-chr19:40694812..40696838,2	K562	blood:
3	chr19:40670201..40673049-chr19:40785070..40788229,3	MCF-7	breast:
4	chr19:40679001..40681401-chr19:40691206..40692907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105221	chromatin interactions

Extended variants
information (count: 858 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs474481	chr19:40665924-40665925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs57484453	chr19:40665947-40665948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs621232	chr19:40665957-40665958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs143169307	chr19:40666017-40666018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567134778	chr19:40666018-40666019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549233353	chr19:40666020-40666021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188843073	chr19:40666029-40666030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567465115	chr19:40666030-40666031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538175781	chr19:40666034-40666035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371934069	chr19:40666043-40666044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376814588	chr19:40666079-40666080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79710624	chr19:40666108-40666109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571516702	chr19:40666142-40666143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528341500	chr19:40666173-40666174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140409844	chr19:40666195-40666196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546599934	chr19:40666283-40666284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558295002	chr19:40666303-40666304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112482971	chr19:40666307-40666308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150344090	chr19:40666343-40666344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571721322	chr19:40666344-40666345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138156465	chr19:40666403-40666404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202036678	chr19:40666422-40666423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574568259	chr19:40666505-40666506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373567704	chr19:40666508-40666509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544936385	chr19:40666518-40666519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143515363	chr19:40666537-40666538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376851963	chr19:40666546-40666547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs502212	chr19:40666588-40666589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34469321	chr19:40666590-40666591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569012300	chr19:40666591-40666592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534192484	chr19:40666599-40666600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76467679	chr19:40666600-40666601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112700119	chr19:40666630-40666631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536360452	chr19:40666670-40666671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185444912	chr19:40666686-40666687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10420778	chr19:40666691-40666692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548686784	chr19:40666695-40666696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567282526	chr19:40666716-40666717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531507366	chr19:40666720-40666721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189958459	chr19:40666805-40666806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573377472	chr19:40666826-40666827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145879566	chr19:40666833-40666834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138602662	chr19:40666914-40666915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149250799	chr19:40666920-40666921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577331216	chr19:40666926-40666927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558247793	chr19:40666976-40666977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117702164	chr19:40666981-40666982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181389293	chr19:40667021-40667022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555472033	chr19:40667060-40667061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574019513	chr19:40667080-40667081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	22522925	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

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	chr19:40661000-40667400	Weak transcription	Primary B cells from cord blood	blood
5	chr19:40662000-40667600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr19:40662000-40667600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:40662200-40667800	Weak transcription	GM12878-XiMat	blood
8	chr19:40662600-40667600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:40663200-40668600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:40663600-40666200	Enhancers	HepG2	liver
11	chr19:40663800-40667400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:40665400-40669400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:40665600-40666400	Enhancers	Ovary	ovary
14	chr19:40666200-40667600	Weak transcription	HepG2	liver
15	chr19:40667400-40670200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:40667400-40671800	Enhancers	Primary B cells from cord blood	blood
17	chr19:40667400-40671800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:40667600-40668000	Enhancers	HepG2	liver
19	chr19:40667600-40670000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr19:40667600-40670200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:40667600-40670200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:40667600-40670600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:40667600-40671800	Enhancers	Primary B cells from peripheral blood	blood
24	chr19:40667800-40668000	Enhancers	GM12878-XiMat	blood
25	chr19:40668000-40668400	Weak transcription	GM12878-XiMat	blood
26	chr19:40668000-40676800	Weak transcription	HepG2	liver
27	chr19:40668200-40670000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr19:40668400-40671800	Enhancers	GM12878-XiMat	blood
29	chr19:40668600-40670000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr19:40668600-40670000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr19:40668600-40670400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr19:40668800-40669400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:40668800-40669800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:40668800-40670000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr19:40669000-40669200	Enhancers	HSMM	muscle
36	chr19:40669200-40669800	Enhancers	A549	lung
37	chr19:40669200-40670000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr19:40669200-40671600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr19:40669400-40669800	Enhancers	Primary hematopoietic stem cells	blood
40	chr19:40669800-40671000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:40669800-40671200	Weak transcription	A549	lung
42	chr19:40670000-40671200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:40670000-40671200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:40670000-40671200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:40670000-40671200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:40670000-40671400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:40670200-40671200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr19:40670200-40671200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:40670200-40671200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:40670400-40671600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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