Variant report

Variant	esv3463430
Chromosome Location	chr3:98414380-98414875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 59 )

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	rs566574762	chr3:98414396-98414397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538771405	chr3:98414400-98414401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558257321	chr3:98414471-98414472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140463545	chr3:98414508-98414509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537324900	chr3:98414526-98414527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76454465	chr3:98414557-98414558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573861372	chr3:98414591-98414592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74556682	chr3:98414646-98414647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146380191	chr3:98414703-98414704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72930915	chr3:98414764-98414765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115129033	chr3:98414770-98414771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142753898	chr3:98414789-98414790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57436171	chr3:98414817-98414818	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98409600-98416000	Enhancers	HUVEC	blood vessel
2	chr3:98410200-98414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:98410200-98414400	Weak transcription	Osteobl	bone
4	chr3:98410200-98417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:98412200-98420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:98414200-98415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:98414200-98418600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:98414400-98414800	Enhancers	Osteobl	bone
9	chr3:98414400-98415400	Enhancers	NHEK	skin
10	chr3:98414400-98416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:98414600-98415400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:98414800-98415000	Flanking Active TSS	Osteobl	bone
13	chr3:98414800-98416000	Enhancers	HMEC	breast

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