Variant report

Variant	esv3327445
Chromosome Location	chr5:5215102-5217100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531198644	chr5:5215105-5215106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142695078	chr5:5215129-5215130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116305657	chr5:5215159-5215160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527503246	chr5:5215162-5215163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552603115	chr5:5215181-5215182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571077712	chr5:5215222-5215223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558404285	chr5:5215228-5215229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150601515	chr5:5215248-5215249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78200136	chr5:5215262-5215263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80240394	chr5:5215263-5215264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4365819	chr5:5215265-5215266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185449299	chr5:5215279-5215280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115534569	chr5:5215284-5215285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574676782	chr5:5215336-5215337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369885095	chr5:5215374-5215375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188648077	chr5:5215385-5215386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372647840	chr5:5215545-5215546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181479920	chr5:5215551-5215552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535581814	chr5:5215584-5215585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557033760	chr5:5215585-5215586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538528285	chr5:5215609-5215610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575277057	chr5:5215683-5215684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559029345	chr5:5215705-5215706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566003465	chr5:5215720-5215721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4702246	chr5:5215753-5215754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555228370	chr5:5215787-5215788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376288127	chr5:5215793-5215794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536965853	chr5:5215810-5215811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201546546	chr5:5215820-5215821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201821638	chr5:5215822-5215823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57628837	chr5:5215826-5215827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137932008	chr5:5215830-5215831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56041596	chr5:5215831-5215832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397703864	chr5:5215841-5215842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570739760	chr5:5215859-5215860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544167802	chr5:5215881-5215882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557646539	chr5:5215888-5215889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200219964	chr5:5215892-5215893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373236533	chr5:5215903-5215904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370414672	chr5:5215906-5215907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376079866	chr5:5215918-5215919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56115820	chr5:5215922-5215923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55667515	chr5:5215939-5215940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545534423	chr5:5215949-5215950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374604690	chr5:5215954-5215955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367721030	chr5:5215955-5215956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13160614	chr5:5215970-5215971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374060998	chr5:5215984-5215985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13181302	chr5:5215985-5215986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200212021	chr5:5215987-5215988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5193800-5219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:5199000-5240000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:5199800-5228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:5201400-5223000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:5201400-5226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:5202600-5240200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:5205400-5222400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:5209600-5221000	Weak transcription	Ovary	ovary
11	chr5:5209600-5222000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:5210000-5220800	Weak transcription	NH-A	brain
13	chr5:5210200-5217800	Weak transcription	Fetal Kidney	kidney
14	chr5:5210200-5218400	Weak transcription	Psoas Muscle	Psoas
15	chr5:5214600-5215200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:5215000-5215400	Enhancers	Brain Substantia Nigra	brain
17	chr5:5215200-5215400	Enhancers	Brain Cingulate Gyrus	brain

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