Variant report

Variant	nsv969048
Chromosome Location	chr5:49931153-49934158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111697808	chr5:49931191-49931192	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535358839	chr5:49931275-49931276	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533607887	chr5:49931293-49931294	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2883461	chr5:49931384-49931385	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558167258	chr5:49931385-49931386	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2883462	chr5:49931400-49931401	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563382531	chr5:49931406-49931407	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528947878	chr5:49931426-49931427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2883463	chr5:49931439-49931440	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145875122	chr5:49931472-49931473	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565569133	chr5:49931475-49931476	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528076129	chr5:49931476-49931477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1968637	chr5:49931488-49931489	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs1968638	chr5:49931489-49931490	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs2354527	chr5:49931513-49931514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2883464	chr5:49931526-49931527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2354528	chr5:49931543-49931544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2354529	chr5:49931575-49931576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs536854386	chr5:49931592-49931593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2354530	chr5:49931626-49931627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2354531	chr5:49931637-49931638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs2354532	chr5:49931646-49931647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187161614	chr5:49931707-49931708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535548246	chr5:49931730-49931731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555808379	chr5:49931748-49931749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192089651	chr5:49931756-49931757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114087939	chr5:49931760-49931761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558533865	chr5:49931781-49931782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372479853	chr5:49931836-49931837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561861974	chr5:49931870-49931871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556434286	chr5:49931872-49931873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578239869	chr5:49931881-49931882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35427867	chr5:49931902-49931903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563704409	chr5:49931905-49931906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529469185	chr5:49931906-49931907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147364228	chr5:49931921-49931922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559391755	chr5:49931940-49931941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200461985	chr5:49931943-49931944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528123287	chr5:49931961-49931962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550918683	chr5:49931987-49931988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373813014	chr5:49932090-49932091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573640233	chr5:49932106-49932107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186846723	chr5:49932116-49932117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190728823	chr5:49932126-49932127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373630701	chr5:49932142-49932143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367593513	chr5:49932161-49932162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182603425	chr5:49932177-49932178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372989882	chr5:49932194-49932195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1968639	chr5:49932215-49932216	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187305762	chr5:49932241-49932242	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	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:54 , 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	chr5:49926800-49934000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:49926800-49934400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:49927400-49931600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:49927400-49932400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:49927400-49932800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr5:49928200-49931800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:49928400-49932400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:49929000-49932400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:49929200-49932400	Enhancers	Fetal Thymus	thymus
12	chr5:49929400-49931600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:49929400-49936200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:49929600-49931600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:49929800-49931600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:49930000-49931600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:49930000-49932400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:49930800-49931800	Enhancers	Dnd41	blood
19	chr5:49930800-49933400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:49931000-49931400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr5:49931000-49932200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:49931000-49934200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:49931000-49934800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:49931400-49934000	Enhancers	Primary T cells from cord blood	blood
25	chr5:49931600-49932000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:49931600-49932800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:49931600-49933400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:49931800-49932200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:49931800-49933600	Weak transcription	Dnd41	blood
30	chr5:49932000-49932600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:49932200-49932400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:49932200-49932400	Enhancers	Primary hematopoietic stem cells	blood
33	chr5:49932200-49932400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:49932400-49933400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:49932400-49933400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:49932400-49933400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:49932400-49933400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:49932600-49933600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr5:49932800-49933200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:49932800-49935200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:49933200-49933800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:49933400-49933600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:49933400-49933800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:49933400-49934000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:49933400-49934000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:49933400-49934000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:49933400-49934000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:49933400-49934200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:49933600-49934000	Enhancers	Dnd41	blood
50	chr5:49933600-49934000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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