Variant report

Variant	esv3361600
Chromosome Location	chr5:124626989-124628140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552571367	chr5:124626989-124626990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566034770	chr5:124626999-124627000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559642811	chr5:124627004-124627005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533325616	chr5:124627008-124627009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566088674	chr5:124627017-124627018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535067941	chr5:124627172-124627173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533124604	chr5:124627184-124627185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113527795	chr5:124627200-124627201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34720319	chr5:124627209-124627210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72532872	chr5:124627213-124627214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548848710	chr5:124627217-124627218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189657771	chr5:124627294-124627295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10519810	chr5:124627321-124627322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11750563	chr5:124627358-124627359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs567445259	chr5:124627446-124627447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534833854	chr5:124627487-124627488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536281470	chr5:124627509-124627510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78930989	chr5:124627510-124627511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182633846	chr5:124627511-124627512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143086809	chr5:124627539-124627540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77267032	chr5:124627551-124627552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575234449	chr5:124627554-124627555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187091589	chr5:124627632-124627633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535951808	chr5:124627645-124627646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79151937	chr5:124627753-124627754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556817328	chr5:124627754-124627755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62373330	chr5:124627815-124627816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145091534	chr5:124627823-124627824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559578403	chr5:124627854-124627855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148360324	chr5:124627878-124627879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545730648	chr5:124627899-124627900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4836168	chr5:124627978-124627979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546246197	chr5:124628010-124628011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62373331	chr5:124628055-124628056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34061745	chr5:124628096-124628097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124614400-124631400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124622400-124627200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:124622400-124628600	Weak transcription	Fetal Brain Male	brain
4	chr5:124624600-124628000	Enhancers	Liver	Liver
5	chr5:124626600-124627200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:124627200-124627400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:124627200-124627600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:124627200-124627600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:124627200-124627800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:124627200-124627800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:124627400-124627600	Enhancers	Fetal Brain Female	brain
12	chr5:124627400-124628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:124627600-124628600	Weak transcription	Fetal Brain Female	brain
14	chr5:124627600-124629200	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:124627800-124633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:124628000-124629800	Enhancers	Dnd41	blood

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