Variant report

Variant	esv3337935
Chromosome Location	chr5:145092659-145093907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145093601..145096391-chr5:145098604..145102525,3	MCF-7	breast:
2	chr5:145087405..145089668-chr5:145092865..145095003,2	K562	blood:
3	chr5:145088168..145091039-chr5:145092677..145095003,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528946889	chr5:145092665-145092666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372539554	chr5:145092775-145092776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76976628	chr5:145092785-145092786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376229124	chr5:145092801-145092802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543084576	chr5:145092819-145092820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544169259	chr5:145092878-145092879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367981938	chr5:145092913-145092914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548689984	chr5:145092914-145092915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562121149	chr5:145092916-145092917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200075218	chr5:145092925-145092926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200823141	chr5:145092930-145092931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562723774	chr5:145092932-145092933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192785693	chr5:145092998-145092999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571563441	chr5:145093022-145093023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369548301	chr5:145093023-145093024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533846178	chr5:145093041-145093042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201101015	chr5:145093055-145093056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113388314	chr5:145093145-145093146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138019513	chr5:145093207-145093208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545399884	chr5:145093211-145093212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565540862	chr5:145093231-145093232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527890458	chr5:145093236-145093237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375820633	chr5:145093321-145093322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560697872	chr5:145093325-145093326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145944671	chr5:145093334-145093335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184412175	chr5:145093338-145093339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567372630	chr5:145093384-145093385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112491050	chr5:145093388-145093389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540438450	chr5:145093404-145093405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538592335	chr5:145093437-145093438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191802602	chr5:145093439-145093440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7701109	chr5:145093453-145093454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529022481	chr5:145093515-145093516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370110501	chr5:145093522-145093523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552513644	chr5:145093543-145093544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535933406	chr5:145093554-145093555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78932006	chr5:145093569-145093570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373162898	chr5:145093584-145093585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562330588	chr5:145093593-145093594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140168247	chr5:145093605-145093606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143906229	chr5:145093630-145093631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577572021	chr5:145093653-145093654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574219706	chr5:145093678-145093679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536722582	chr5:145093686-145093687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545375656	chr5:145093702-145093703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556592901	chr5:145093717-145093718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576374928	chr5:145093725-145093726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184013128	chr5:145093743-145093744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370556204	chr5:145093755-145093756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150867841	chr5:145093804-145093805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Acute myeloid leukemia	16864856	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
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145068600-145106200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:145082000-145106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:145086600-145093400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:145091200-145106200	Weak transcription	Ovary	ovary
5	chr5:145092200-145093600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:145093400-145093800	Enhancers	Stomach Smooth Muscle	stomach
7	chr5:145093600-145094000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:145093600-145094200	Enhancers	Adipose Nuclei	Adipose
9	chr5:145093600-145094200	Enhancers	Colon Smooth Muscle	Colon

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