Variant report

Variant	esv3332216
Chromosome Location	chr5:147456309-147458457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578258112	chr5:147456349-147456350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566182457	chr5:147456407-147456408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557755939	chr5:147456423-147456424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575899760	chr5:147456432-147456433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543514214	chr5:147456467-147456468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372595551	chr5:147456490-147456491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139151353	chr5:147456498-147456499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528952649	chr5:147456536-147456537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79062863	chr5:147456592-147456593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559107772	chr5:147456595-147456596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533075504	chr5:147456599-147456600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545268055	chr5:147456610-147456611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180683122	chr5:147456636-147456637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558313253	chr5:147456655-147456656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570037993	chr5:147456684-147456685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530774243	chr5:147456694-147456695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11322859	chr5:147456754-147456755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78257703	chr5:147456763-147456764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186276276	chr5:147456841-147456842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113445159	chr5:147456842-147456843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6864564	chr5:147456843-147456844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs555800050	chr5:147456866-147456867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6889688	chr5:147456941-147456942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs145239977	chr5:147457200-147457201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373850935	chr5:147457201-147457202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71001472	chr5:147457223-147457224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191936600	chr5:147457244-147457245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571840947	chr5:147457260-147457261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149918106	chr5:147457273-147457274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575885985	chr5:147457361-147457362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543078135	chr5:147457413-147457414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201845670	chr5:147457465-147457466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555338408	chr5:147457475-147457476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573441557	chr5:147457487-147457488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540682631	chr5:147457515-147457516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184188242	chr5:147457605-147457606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4333302	chr5:147457670-147457671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs144997558	chr5:147457689-147457690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75533763	chr5:147457690-147457691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530833470	chr5:147457717-147457718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549151383	chr5:147457742-147457743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563241484	chr5:147457745-147457746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112307983	chr5:147457750-147457751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567626691	chr5:147457757-147457758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73794656	chr5:147457765-147457766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115779530	chr5:147457784-147457785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571885647	chr5:147457790-147457791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538896985	chr5:147457801-147457802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557507821	chr5:147457879-147457880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569496589	chr5:147457911-147457912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147437200-147457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:147437800-147463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:147450400-147469000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:147450600-147468600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:147450800-147474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:147451000-147470000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:147454000-147470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:147455600-147469000	Weak transcription	Esophagus	oesophagus
9	chr5:147457600-147462600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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