Variant report

Variant	nsv980790
Chromosome Location	chr5:49934158-49945480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 476 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:476 , 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	rs574330652	chr5:49934260-49934261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540555414	chr5:49934265-49934266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560463612	chr5:49934275-49934276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529369008	chr5:49934304-49934305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181733033	chr5:49934309-49934310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545975084	chr5:49934311-49934312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200692778	chr5:49934411-49934412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550232006	chr5:49934412-49934413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115542672	chr5:49934451-49934452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531003081	chr5:49934472-49934473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554843486	chr5:49934521-49934522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112682429	chr5:49934531-49934532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550717883	chr5:49934628-49934629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566115298	chr5:49934634-49934635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567677291	chr5:49934636-49934637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530024216	chr5:49934674-49934675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62366903	chr5:49934771-49934772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540786643	chr5:49934799-49934800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185691271	chr5:49934812-49934813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538850243	chr5:49934856-49934857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552994171	chr5:49934887-49934888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112194088	chr5:49934889-49934890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190060394	chr5:49934945-49934946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537974482	chr5:49935048-49935049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528469591	chr5:49935050-49935051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574415578	chr5:49935094-49935095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183062802	chr5:49935107-49935108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375196358	chr5:49935108-49935109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369722653	chr5:49935109-49935110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554113552	chr5:49935136-49935137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577170074	chr5:49935142-49935143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115901846	chr5:49935164-49935165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114512668	chr5:49935183-49935184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531381063	chr5:49935211-49935212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544724013	chr5:49935230-49935231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113854398	chr5:49935232-49935233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34174045	chr5:49935250-49935251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563281910	chr5:49935259-49935260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373737036	chr5:49935320-49935321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561214371	chr5:49935403-49935404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201476804	chr5:49935414-49935415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530154547	chr5:49935426-49935427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376179976	chr5:49935432-49935433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369828341	chr5:49935470-49935471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185970853	chr5:49935531-49935532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372384126	chr5:49935593-49935594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114410855	chr5:49935637-49935638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190885212	chr5:49935678-49935679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560946224	chr5:49935700-49935701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1900739	chr5:49935731-49935732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49926400-49934200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:49926600-49934200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:49926800-49934400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr5:49929400-49936200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr5:49931000-49934200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:49931000-49934800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:49932800-49935200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:49933400-49934200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:49933800-49942400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:49934000-49934400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:49934000-49934600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:49934000-49934800	Weak transcription	Primary T cells from cord blood	blood
13	chr5:49934200-49934800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:49934200-49937800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:49934200-49943800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:49934400-49935200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:49934400-49938000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:49934600-49934800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:49934800-49935000	Enhancers	Primary T cells from cord blood	blood
20	chr5:49934800-49935400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:49934800-49937400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:49935200-49935400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr5:49935400-49935800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:49935800-49936200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr5:49937400-49939200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:49937800-49939400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:49938000-49938400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:49938400-49939000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:49939000-49939400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:49939200-49942400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:49939400-49942400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:49939400-49942400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:49942400-49942600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:49942400-49943000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:49942400-49943600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:49942400-49943600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:49942400-49944400	Enhancers	Primary B cells from cord blood	blood
38	chr5:49942400-49946000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:49942600-49944000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:49942600-49945000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr5:49943000-49943400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr5:49943000-49943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:49943000-49944400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:49943400-49943600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:49943400-49944200	Enhancers	Primary hematopoietic stem cells	blood
46	chr5:49943600-49944000	Enhancers	Dnd41	blood
47	chr5:49943600-49944400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:49943600-49944600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:49943600-49944800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr5:49943800-49944000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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