Variant report

Variant	esv3438194
Chromosome Location	chr3:121609919-121610143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6438686	chr3:121609955-121609956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184907253	chr3:121610023-121610024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565656673	chr3:121610074-121610075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121555800-121615600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:121559200-121613200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:121583400-121612400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:121585000-121613200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:121592800-121646800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:121593000-121615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:121593000-121632400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:121602400-121611400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:121604600-121613200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:121604600-121613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:121604600-121613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:121604800-121613000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:121605200-121613800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:121606000-121613000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:121606800-121610600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:121607000-121610400	Weak transcription	Primary B cells from cord blood	blood
17	chr3:121607800-121613000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:121608000-121613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:121608000-121613000	Weak transcription	GM12878-XiMat	blood
20	chr3:121608400-121613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:121609800-121611200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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