Variant report

Variant	esv3389263
Chromosome Location	chr5:164544474-164546647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548477402	chr5:164544481-164544482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149544943	chr5:164544494-164544495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549938022	chr5:164544502-164544503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374899973	chr5:164544525-164544526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187664505	chr5:164544546-164544547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191932980	chr5:164544547-164544548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554298935	chr5:164544550-164544551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72815318	chr5:164544579-164544580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372434227	chr5:164544601-164544602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182974521	chr5:164544643-164544644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187519877	chr5:164544694-164544695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386694512	chr5:164544704-164544705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78442297	chr5:164544705-164544706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542991226	chr5:164544711-164544712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75571843	chr5:164544715-164544716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558760683	chr5:164544791-164544792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577028175	chr5:164544806-164544807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570727573	chr5:164544825-164544826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112806161	chr5:164544850-164544851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559471463	chr5:164544858-164544859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574703576	chr5:164544859-164544860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78659682	chr5:164544865-164544866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541427827	chr5:164544886-164544887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191308258	chr5:164544938-164544939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367683938	chr5:164544945-164544946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531890255	chr5:164544957-164544958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555324645	chr5:164544961-164544962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147216184	chr5:164544966-164544967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541849540	chr5:164545016-164545017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565143413	chr5:164545021-164545022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573556432	chr5:164545032-164545033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7444097	chr5:164545070-164545071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532791018	chr5:164545098-164545099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573507899	chr5:164545112-164545113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116624365	chr5:164545202-164545203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527786176	chr5:164545226-164545227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35276619	chr5:164545227-164545228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367998317	chr5:164545232-164545233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548401083	chr5:164545238-164545239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71000254	chr5:164545239-164545240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369722420	chr5:164545240-164545241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56402213	chr5:164545242-164545243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564693211	chr5:164545260-164545261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532021695	chr5:164545289-164545290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142671732	chr5:164545291-164545292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576785925	chr5:164545303-164545304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199893142	chr5:164545306-164545307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553291726	chr5:164545308-164545309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574815971	chr5:164545317-164545318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192341762	chr5:164545323-164545324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Acute lymphoblastic leukemia	22237106	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
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	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
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164540600-164547200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:164546400-164547000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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