Variant report

Variant	nsv329267
Chromosome Location	chr5:116185747-116188342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566011925	chr5:116185748-116185749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369635736	chr5:116185759-116185760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368886145	chr5:116185769-116185770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554599397	chr5:116185803-116185804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188917448	chr5:116185807-116185808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192367674	chr5:116185810-116185811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556736788	chr5:116185812-116185813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112337590	chr5:116185814-116185815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186816248	chr5:116185833-116185834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559504778	chr5:116185847-116185848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528805481	chr5:116185853-116185854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542149372	chr5:116185855-116185856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566801254	chr5:116185879-116185880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373063360	chr5:116185886-116185887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534267039	chr5:116185901-116185902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191275057	chr5:116185907-116185908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551074907	chr5:116185908-116185909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150721693	chr5:116185913-116185914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370028951	chr5:116185914-116185915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552426381	chr5:116185915-116185916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374260091	chr5:116185939-116185940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555466146	chr5:116185944-116185945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534958812	chr5:116186024-116186025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554529116	chr5:116186032-116186033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74422345	chr5:116186061-116186062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137953152	chr5:116186096-116186097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs698383	chr5:116186134-116186135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557035001	chr5:116186153-116186154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12515487	chr5:116186158-116186159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539144060	chr5:116186183-116186184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553190824	chr5:116186201-116186202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114084217	chr5:116186218-116186219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542512590	chr5:116186255-116186256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546490446	chr5:116186266-116186267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562214421	chr5:116186357-116186358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556635688	chr5:116186392-116186393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575609532	chr5:116186404-116186405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373236842	chr5:116186440-116186441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184310067	chr5:116186448-116186449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544311902	chr5:116186569-116186570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564449116	chr5:116186584-116186585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566404451	chr5:116186592-116186593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115596724	chr5:116186611-116186612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs66814470	chr5:116186614-116186615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188239359	chr5:116186630-116186631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528228522	chr5:116186641-116186642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374226899	chr5:116186670-116186671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115713685	chr5:116186694-116186695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568232234	chr5:116186778-116186779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114113453	chr5:116186788-116186789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116181000-116189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:116181800-116186000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:116185200-116189800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:116185200-116191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:116185200-116193800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:116185600-116187800	Weak transcription	HepG2	liver
7	chr5:116185600-116191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:116186000-116186600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:116186200-116187000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:116186400-116186600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:116186400-116186800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:116186400-116187600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:116186600-116189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:116186800-116189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:116187000-116189600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:116187200-116190000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:116187400-116188600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:116187600-116188200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:116187800-116188600	Enhancers	HepG2	liver
20	chr5:116188200-116188400	Enhancers	H9 Cell Line	embryonic stem cell

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