Variant report

Variant	esv18894
Chromosome Location	chr5:151843033-151846488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188362657	chr5:151843061-151843062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554913107	chr5:151843072-151843073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536674335	chr5:151843077-151843078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72793460	chr5:151843104-151843105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534899610	chr5:151843146-151843147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552919438	chr5:151843190-151843191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7700695	chr5:151843206-151843207	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150652541	chr5:151843227-151843228	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569327648	chr5:151843245-151843246	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36115811	chr5:151843253-151843254	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181271000	chr5:151843320-151843321	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562048814	chr5:151843378-151843379	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577062790	chr5:151843416-151843417	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72793462	chr5:151843439-151843440	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144854323	chr5:151843456-151843457	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185734434	chr5:151843502-151843503	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191514076	chr5:151843503-151843504	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72793463	chr5:151843518-151843519	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147953205	chr5:151843542-151843543	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548600427	chr5:151843615-151843616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567231347	chr5:151843635-151843636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12658063	chr5:151843659-151843660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370536803	chr5:151843684-151843685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11744469	chr5:151843695-151843696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546862805	chr5:151843703-151843704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571410056	chr5:151843718-151843719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534221873	chr5:151843737-151843738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538860108	chr5:151843739-151843740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557160937	chr5:151843765-151843766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140155296	chr5:151843781-151843782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558561214	chr5:151843804-151843805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12655878	chr5:151843817-151843818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12660058	chr5:151843851-151843852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148034957	chr5:151843939-151843940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573972017	chr5:151843941-151843942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77081761	chr5:151843942-151843943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62393528	chr5:151844043-151844044	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62393529	chr5:151844052-151844053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187171768	chr5:151844132-151844133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551074757	chr5:151844140-151844141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548665133	chr5:151844173-151844174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560761504	chr5:151844180-151844181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62393530	chr5:151844182-151844183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192468457	chr5:151844222-151844223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182111451	chr5:151844314-151844315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111578774	chr5:151844327-151844328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186796231	chr5:151844328-151844329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550823146	chr5:151844355-151844356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537937262	chr5:151844419-151844420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537586529	chr5:151844462-151844463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Renal cell carcinoma	18592004	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151840000-151846400	Enhancers	Fetal Intestine Small	intestine
2	chr5:151841000-151843200	Enhancers	Fetal Intestine Large	intestine
3	chr5:151842000-151846000	Enhancers	Stomach Mucosa	stomach
4	chr5:151843000-151843200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:151843200-151843400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:151843200-151844600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:151843400-151843600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:151843600-151844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:151844400-151845200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:151844600-151845200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:151844600-151846200	Enhancers	Fetal Intestine Large	intestine
12	chr5:151845200-151845800	Enhancers	Right Atrium	heart
13	chr5:151845200-151846200	Enhancers	Adipose Nuclei	Adipose
14	chr5:151845200-151846400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:151845400-151846400	Enhancers	Left Ventricle	heart
16	chr5:151845800-151846000	Enhancers	Brain Hippocampus Middle	brain
17	chr5:151845800-151846200	Weak transcription	Right Atrium	heart
18	chr5:151846000-151851600	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:151846200-151846400	Enhancers	Right Atrium	heart
20	chr5:151846400-151847000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:151846400-151850000	Weak transcription	Right Atrium	heart
22	chr5:151846400-151851200	Weak transcription	Left Ventricle	heart

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