Variant report

Variant	nsv823219
Chromosome Location	chr5:128261719-128263712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188881756	chr5:128261731-128261732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55729238	chr5:128261740-128261741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs114235594	chr5:128261793-128261794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569243725	chr5:128261794-128261795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6867677	chr5:128261851-128261852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370856535	chr5:128261864-128261865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35117767	chr5:128261887-128261888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375969329	chr5:128261899-128261900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60267094	chr5:128261900-128261901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76609603	chr5:128261901-128261902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397777324	chr5:128261902-128261903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542188229	chr5:128261922-128261923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56105026	chr5:128261926-128261927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192390464	chr5:128261929-128261930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553992864	chr5:128261954-128261955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34858747	chr5:128261982-128261983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566633744	chr5:128261995-128261996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556486363	chr5:128262001-128262002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147892873	chr5:128262038-128262039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575651352	chr5:128262094-128262095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2577488	chr5:128262173-128262174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370851887	chr5:128262193-128262194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554558968	chr5:128262211-128262212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574495223	chr5:128262261-128262262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184393560	chr5:128262282-128262283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187238807	chr5:128262286-128262287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10520015	chr5:128262334-128262335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs111734907	chr5:128262433-128262434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561416629	chr5:128262436-128262437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532723402	chr5:128262461-128262462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546120102	chr5:128262529-128262530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368974914	chr5:128262581-128262582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371075113	chr5:128262644-128262645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80295310	chr5:128262690-128262691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72797166	chr5:128262722-128262723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs10598721	chr5:128262733-128262734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13163698	chr5:128262734-128262735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548480038	chr5:128262737-128262738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397999230	chr5:128262739-128262740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200709162	chr5:128262741-128262742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562391274	chr5:128262774-128262775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140494885	chr5:128262891-128262892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6873224	chr5:128262905-128262906	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574997415	chr5:128262929-128262930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138261199	chr5:128262961-128262962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558836931	chr5:128262975-128262976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569078075	chr5:128262976-128262977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538098190	chr5:128262987-128262988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149624169	chr5:128263012-128263013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574352519	chr5:128263049-128263050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128260200-128264800	Enhancers	Fetal Heart	heart
2	chr5:128260400-128264600	Weak transcription	Right Ventricle	heart
3	chr5:128261600-128262600	Enhancers	Fetal Lung	lung
4	chr5:128261800-128263200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:128261800-128265200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:128262400-128264800	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:128262400-128265000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:128262400-128265000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:128262400-128265200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:128263000-128263800	Enhancers	HUVEC	blood vessel
11	chr5:128263200-128263400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:128263400-128263600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:128263400-128263600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:128263600-128264000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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