Variant report

Variant	esv3416635
Chromosome Location	chr5:111630322-111630588
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	chr5:111629073..111631228-chr5:111635645..111639350,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549874594	chr5:111630344-111630345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56108405	chr5:111630352-111630353	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs55639430	chr5:111630381-111630382	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs372640849	chr5:111630390-111630391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55637388	chr5:111630400-111630401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs187600548	chr5:111630436-111630437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536401193	chr5:111630450-111630451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548785351	chr5:111630454-111630455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190582552	chr5:111630482-111630483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66892745	chr5:111630499-111630500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs144442762	chr5:111630519-111630520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537334319	chr5:111630520-111630521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563406763	chr5:111630546-111630547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111628800-111631600	Enhancers	Fetal Heart	heart
2	chr5:111629400-111630600	Enhancers	Right Atrium	heart
3	chr5:111629600-111630400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:111629600-111631000	Enhancers	Left Ventricle	heart
5	chr5:111629600-111631000	Enhancers	Right Ventricle	heart
6	chr5:111630000-111630400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:111630000-111630400	Enhancers	Brain Anterior Caudate	brain
8	chr5:111630000-111630600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:111630000-111631000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:111630400-111639600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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