Variant report

Variant	esv1009065
Chromosome Location	chr5:151838695-151846351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 266 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566711531	chr5:151839641-151839642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567310294	chr5:151839722-151839723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62393522	chr5:151839754-151839755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192176584	chr5:151839861-151839862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536954998	chr5:151839873-151839874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10719181	chr5:151839921-151839922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538722330	chr5:151839931-151839932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556968603	chr5:151839964-151839965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61640731	chr5:151839974-151839975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567169272	chr5:151840058-151840059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578014426	chr5:151840105-151840106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183943052	chr5:151840113-151840114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189188632	chr5:151840143-151840144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573410673	chr5:151840191-151840192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368428860	chr5:151840207-151840208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545601889	chr5:151840210-151840211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560488271	chr5:151840225-151840226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139930588	chr5:151840226-151840227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540847218	chr5:151840232-151840233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142046474	chr5:151840250-151840251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565304524	chr5:151840256-151840257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192233326	chr5:151840284-151840285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568366757	chr5:151840291-151840292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553465866	chr5:151840300-151840301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55657913	chr5:151840314-151840315	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182476135	chr5:151840338-151840339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187118438	chr5:151840339-151840340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541803040	chr5:151840363-151840364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55638905	chr5:151840391-151840392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367793521	chr5:151840409-151840410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58985741	chr5:151840415-151840416	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201451339	chr5:151840417-151840418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191804039	chr5:151840423-151840424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147566719	chr5:151840453-151840454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550652883	chr5:151840480-151840481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75926308	chr5:151840498-151840499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184351188	chr5:151840521-151840522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554517428	chr5:151840636-151840637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568899925	chr5:151840638-151840639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56211663	chr5:151840735-151840736	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534212302	chr5:151840754-151840755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114624281	chr5:151840760-151840761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55724355	chr5:151840785-151840786	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376851631	chr5:151840801-151840802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544361136	chr5:151840819-151840820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140763062	chr5:151840827-151840828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4602615	chr5:151840869-151840870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541868430	chr5:151840927-151840928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559858898	chr5:151840954-151840955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540755822	chr5:151840968-151840969	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151839600-151842000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:151839800-151840000	Enhancers	Fetal Intestine Large	intestine
3	chr5:151840000-151841000	Weak transcription	Fetal Intestine Large	intestine
4	chr5:151840000-151846400	Enhancers	Fetal Intestine Small	intestine
5	chr5:151841000-151841800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:151841000-151843200	Enhancers	Fetal Intestine Large	intestine
7	chr5:151841600-151842400	Enhancers	GM12878-XiMat	blood
8	chr5:151841800-151842200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:151841800-151842200	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:151842000-151843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:151842000-151846000	Enhancers	Stomach Mucosa	stomach
12	chr5:151843000-151843200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:151843200-151843400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:151843200-151844600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:151843400-151843600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:151843600-151844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:151844400-151845200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:151844600-151845200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:151844600-151846200	Enhancers	Fetal Intestine Large	intestine
20	chr5:151845200-151845800	Enhancers	Right Atrium	heart
21	chr5:151845200-151846200	Enhancers	Adipose Nuclei	Adipose
22	chr5:151845200-151846400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:151845400-151846400	Enhancers	Left Ventricle	heart
24	chr5:151845800-151846000	Enhancers	Brain Hippocampus Middle	brain
25	chr5:151845800-151846200	Weak transcription	Right Atrium	heart
26	chr5:151846000-151851600	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:151846200-151846400	Enhancers	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links