Variant report

Variant	esv1276207
Chromosome Location	chr3:119350622-119350623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119298163..119299885-chr3:119348210..119351201,3	MCF-7	breast:
2	chr3:119297851..119299731-chr3:119347893..119350770,2	MCF-7	breast:
3	chr3:119349377..119351910-chr3:119353160..119355843,2	K562	blood:
4	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:
5	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272967	chromatin interactions
ENSG00000144843	chromatin interactions
ENSG00000242052	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs77229008	chr3:119350623-119350624	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	21339820	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
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119343800-119351400	Enhancers	Psoas Muscle	Psoas
4	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
5	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:119345200-119350800	Weak transcription	Fetal Heart	heart
7	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:119346000-119351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:119346200-119351000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:119346400-119350800	Enhancers	Placenta	Placenta
12	chr3:119346400-119351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:119346800-119352600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
15	chr3:119349000-119351200	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:119349000-119351400	Enhancers	K562	blood
17	chr3:119349200-119351000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:119349400-119350800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:119349400-119351200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr3:119349400-119351600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
22	chr3:119349600-119354400	Weak transcription	Fetal Stomach	stomach
23	chr3:119349600-119355000	Weak transcription	Spleen	Spleen
24	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:119349800-119350800	Weak transcription	Left Ventricle	heart
26	chr3:119349800-119350800	Weak transcription	Ovary	ovary
27	chr3:119349800-119351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:119349800-119351000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:119349800-119351200	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:119349800-119351800	Weak transcription	Right Ventricle	heart
31	chr3:119349800-119353800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:119349800-119354400	Weak transcription	Right Atrium	heart
33	chr3:119349800-119355000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:119350000-119351000	Weak transcription	Adipose Nuclei	Adipose
39	chr3:119350000-119352000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:119350000-119352200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr3:119350000-119354400	Weak transcription	Lung	lung
42	chr3:119350000-119354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:119350000-119354600	Weak transcription	GM12878-XiMat	blood
44	chr3:119350000-119354600	Weak transcription	HUVEC	blood vessel
45	chr3:119350000-119354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:119350000-119354800	Weak transcription	NHDF-Ad	bronchial
47	chr3:119350000-119355000	Weak transcription	NH-A	brain
48	chr3:119350000-119355000	Weak transcription	NHLF	lung
49	chr3:119350000-119355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:119350200-119350800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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