Variant report

Variant	esv3397270
Chromosome Location	chr3:157126467-157126719
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	chr3:157120587..157122902-chr3:157126079..157127970,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74419660	chr3:157126471-157126472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574405998	chr3:157126516-157126517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77169352	chr3:157126550-157126551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1456104	chr3:157126631-157126632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs562513295	chr3:157126651-157126652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370569772	chr3:157126713-157126714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157091800-157142600	Weak transcription	Pancreas	Pancrea
2	chr3:157107400-157128000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:157113400-157129800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:157116000-157128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:157119000-157142800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:157120000-157142600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:157120200-157135800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:157123000-157126600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:157123000-157135000	Weak transcription	Spleen	Spleen
10	chr3:157123600-157129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:157123800-157128600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:157123800-157130000	Weak transcription	NH-A	brain
13	chr3:157124400-157131200	Weak transcription	Osteobl	bone
14	chr3:157124400-157134200	Weak transcription	HSMM	muscle
15	chr3:157124400-157135800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:157124600-157129600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:157124600-157134800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:157125200-157126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:157125800-157129400	Weak transcription	HUVEC	blood vessel
20	chr3:157126400-157126600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:157126400-157126800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:157126400-157127200	Enhancers	NHEK	skin
23	chr3:157126400-157127400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:157126600-157127000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:157126600-157135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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