Variant report

Variant	esv3471379
Chromosome Location	chr5:146636341-146637721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536861192	chr5:146636355-146636356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373435382	chr5:146636364-146636365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570583382	chr5:146636365-146636366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559604494	chr5:146636367-146636368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35294904	chr5:146636399-146636400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188554046	chr5:146636405-146636406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572777811	chr5:146636445-146636446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548762168	chr5:146636450-146636451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9686742	chr5:146636488-146636489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551966853	chr5:146636507-146636508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554973470	chr5:146636698-146636699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575031376	chr5:146636703-146636704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543631908	chr5:146636710-146636711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532503573	chr5:146636736-146636737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371138626	chr5:146636746-146636747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530996808	chr5:146636810-146636811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577009063	chr5:146636813-146636814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12516953	chr5:146636819-146636820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570834819	chr5:146636820-146636821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181211677	chr5:146636822-146636823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539824410	chr5:146636826-146636827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12521919	chr5:146636869-146636870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561836342	chr5:146636876-146636877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149110215	chr5:146636896-146636897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9687955	chr5:146636900-146636901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185818340	chr5:146636950-146636951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73793364	chr5:146636988-146636989	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148273941	chr5:146637089-146637090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11167981	chr5:146637156-146637157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535109401	chr5:146637163-146637164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11167982	chr5:146637171-146637172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568676778	chr5:146637173-146637174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs55782611	chr5:146637174-146637175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113625469	chr5:146637187-146637188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11167983	chr5:146637204-146637205	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545975725	chr5:146637271-146637272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553199124	chr5:146637282-146637283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573240236	chr5:146637298-146637299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541878957	chr5:146637299-146637300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562078458	chr5:146637314-146637315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13340343	chr5:146637336-146637337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181042465	chr5:146637381-146637382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543370745	chr5:146637395-146637396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564369656	chr5:146637434-146637435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13190267	chr5:146637470-146637471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546770649	chr5:146637520-146637521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539820858	chr5:146637533-146637534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559666754	chr5:146637597-146637598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566466624	chr5:146637671-146637672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11750936	chr5:146637696-146637697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146622200-146640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:146628600-146659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:146631600-146636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:146635200-146638400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:146635400-146637200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:146635400-146637600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:146636400-146637200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:146637200-146637400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:146637200-146639200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:146637400-146638200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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