Variant report

Variant	nsv968126
Chromosome Location	chr5:179821053-179822526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147492511	chr5:179821075-179821076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552549335	chr5:179821137-179821138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7705745	chr5:179821150-179821151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs538362989	chr5:179821191-179821192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555128351	chr5:179821192-179821193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575070630	chr5:179821208-179821209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534435420	chr5:179821252-179821253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554167164	chr5:179821269-179821270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577470264	chr5:179821299-179821300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544639515	chr5:179821300-179821301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79785109	chr5:179821405-179821406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148107974	chr5:179821414-179821415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7726800	chr5:179821445-179821446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs560687393	chr5:179821477-179821478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529833099	chr5:179821478-179821479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546390373	chr5:179821506-179821507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192735892	chr5:179821573-179821574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532450438	chr5:179821581-179821582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11749153	chr5:179821582-179821583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141879251	chr5:179821612-179821613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548693161	chr5:179821619-179821620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568618096	chr5:179821631-179821632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534343679	chr5:179821688-179821689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554356021	chr5:179821689-179821690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571023804	chr5:179821690-179821691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11249708	chr5:179821728-179821729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375071762	chr5:179821732-179821733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574880693	chr5:179821733-179821734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386695754	chr5:179821736-179821737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9784702	chr5:179821738-179821739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574201194	chr5:179821765-179821766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540018385	chr5:179821767-179821768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536570725	chr5:179821769-179821770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184125670	chr5:179821781-179821782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546063101	chr5:179821790-179821791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562680944	chr5:179821793-179821794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531735578	chr5:179821795-179821796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548605696	chr5:179821850-179821851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7710692	chr5:179821920-179821921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189515082	chr5:179821936-179821937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547648995	chr5:179822023-179822024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181852281	chr5:179822024-179822025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367593271	chr5:179822034-179822035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528748863	chr5:179822036-179822037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113507550	chr5:179822049-179822050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556809678	chr5:179822059-179822060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7711012	chr5:179822064-179822065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537405915	chr5:179822094-179822095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571653551	chr5:179822099-179822100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9784650	chr5:179822102-179822103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179819000-179821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:179821000-179821600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179821600-179822600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:179822000-179822200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:179822000-179823400	Enhancers	Fetal Muscle Trunk	muscle
6	chr5:179822200-179822400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:179822400-179822600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:179822400-179823000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:179822400-179823200	Enhancers	Fetal Muscle Leg	muscle

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