Variant report

Variant	esv2451751
Chromosome Location	chr3:99262944-99262945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 52 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13063175	chr3:99262944-99262945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99256600-99263800	Weak transcription	Aorta	Aorta
2	chr3:99260800-99264600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99260800-99264800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:99261200-99264800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:99261200-99265600	Enhancers	Hela-S3	cervix
6	chr3:99261400-99264400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:99261400-99264400	Enhancers	HMEC	breast
8	chr3:99261600-99265600	Enhancers	HSMM	muscle
9	chr3:99261800-99263000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:99261800-99263000	Enhancers	Spleen	Spleen
11	chr3:99261800-99264000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:99261800-99264400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:99261800-99264400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:99261800-99264400	Enhancers	Osteobl	bone
15	chr3:99261800-99264600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:99261800-99264600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:99261800-99264600	Enhancers	Adipose Nuclei	Adipose
18	chr3:99261800-99264800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:99262000-99263000	Enhancers	Right Atrium	heart
20	chr3:99262000-99264600	Enhancers	NHLF	lung
21	chr3:99262000-99265000	Enhancers	HSMMtube	muscle
22	chr3:99262000-99265400	Enhancers	NHDF-Ad	bronchial
23	chr3:99262200-99263800	Weak transcription	NH-A	brain
24	chr3:99262400-99263400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:99262400-99263600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:99262400-99264200	Enhancers	HUVEC	blood vessel
27	chr3:99262600-99263000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:99262600-99263000	Enhancers	Lung	lung
29	chr3:99262600-99263000	Enhancers	Right Ventricle	heart
30	chr3:99262600-99263200	Enhancers	Left Ventricle	heart
31	chr3:99262600-99263600	Weak transcription	Placenta	Placenta
32	chr3:99262600-99264000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:99262600-99264200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:99262800-99263000	Enhancers	Gastric	stomach
35	chr3:99262800-99263600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:99262800-99265400	Enhancers	NHEK	skin

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