Variant report

Variant	esv2164588
Chromosome Location	chr5:116221926-116222325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116216466..116219443-chr5:116220949..116224827,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576819532	chr5:116221933-116221934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370711592	chr5:116222004-116222005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116682787	chr5:116222008-116222009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138301648	chr5:116222032-116222033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3073857	chr5:116222033-116222034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529429178	chr5:116222068-116222069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369272679	chr5:116222072-116222073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386691503	chr5:116222074-116222075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140144348	chr5:116222132-116222133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386508621	chr5:116222133-116222134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375904996	chr5:116222141-116222142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73264821	chr5:116222183-116222184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1972623	chr5:116222219-116222220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562228534	chr5:116222257-116222258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76100473	chr5:116222283-116222284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184991020	chr5:116222288-116222289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189501743	chr5:116222301-116222302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2545406	chr5:116222307-116222308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551975938	chr5:116222318-116222319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559150206	chr5:116222321-116222322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Colorectal cancer	16272173	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116216200-116224800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:116218000-116222600	Enhancers	GM12878-XiMat	blood

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