Variant report

Variant	nsv521547
Chromosome Location	chr5:119434193-119437585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1348478	chr5:119434193-119434194	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531566110	chr5:119434304-119434305	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs193193787	chr5:119434315-119434316	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115225387	chr5:119434353-119434354	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527570627	chr5:119434363-119434364	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547419297	chr5:119434424-119434425	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144084979	chr5:119434448-119434449	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567405674	chr5:119434493-119434494	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529858234	chr5:119434524-119434525	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549813864	chr5:119434653-119434654	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144757512	chr5:119434662-119434663	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377208496	chr5:119434663-119434664	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185010734	chr5:119434685-119434686	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112101629	chr5:119434721-119434722	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370669892	chr5:119434761-119434762	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148395873	chr5:119434767-119434768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142513696	chr5:119434773-119434774	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs560787444	chr5:119434801-119434802	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534492894	chr5:119434811-119434812	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554175236	chr5:119434835-119434836	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574139343	chr5:119434883-119434884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75038959	chr5:119434957-119434958	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115878302	chr5:119435010-119435011	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556594882	chr5:119435022-119435023	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150526142	chr5:119435029-119435030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs140443425	chr5:119435030-119435031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2166013	chr5:119435037-119435038	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2166012	chr5:119435041-119435042	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs541279195	chr5:119435044-119435045	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147727113	chr5:119435100-119435101	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561040890	chr5:119435127-119435128	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532098242	chr5:119435151-119435152	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12189312	chr5:119435162-119435163	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142624321	chr5:119435163-119435164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs569901401	chr5:119435227-119435228	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs532236076	chr5:119435236-119435237	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs149842319	chr5:119435283-119435284	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs148916804	chr5:119435331-119435332	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143660675	chr5:119435332-119435333	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548037673	chr5:119435364-119435365	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs377164990	chr5:119435384-119435385	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs527987282	chr5:119435437-119435438	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567889146	chr5:119435461-119435462	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536982933	chr5:119435485-119435486	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556326306	chr5:119435491-119435492	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576272648	chr5:119435505-119435506	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537615012	chr5:119435534-119435535	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538698650	chr5:119435542-119435543	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2636976	chr5:119435593-119435594	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188274365	chr5:119435626-119435627	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119430000-119439200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:119432800-119434200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:119433600-119436200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:119433800-119435800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:119434000-119434400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:119434000-119434400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:119434000-119434400	Enhancers	NHDF-Ad	bronchial
8	chr5:119434200-119434800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:119434200-119435800	Enhancers	Fetal Stomach	stomach
10	chr5:119434400-119434800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:119434800-119435000	Enhancers	Fetal Lung	lung
12	chr5:119434800-119435200	Enhancers	Fetal Brain Male	brain
13	chr5:119434800-119435200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:119435200-119435400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:119435400-119439200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:119435800-119439000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:119436200-119439000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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