Variant report

Variant	esv3416881
Chromosome Location	chr3:157095945-157096267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 52 )

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	rs4482625	chr3:157096009-157096010	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564273928	chr3:157096066-157096067	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200758215	chr3:157096096-157096097	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568023800	chr3:157096114-157096115	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56800722	chr3:157096124-157096125	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58301429	chr3:157096128-157096129	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528492948	chr3:157096144-157096145	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546767377	chr3:157096146-157096147	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568259927	chr3:157096209-157096210	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4435581	chr3:157096217-157096218	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143015601	chr3:157096235-157096236	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569132919	chr3:157096239-157096240	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539700763	chr3:157096240-157096241	Weak transcription Enhancers Genic enhancers Strong transcription	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	chr3:157078200-157102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:157083600-157105800	Weak transcription	HSMM	muscle
3	chr3:157088000-157108600	Weak transcription	Lung	lung
4	chr3:157088600-157105400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:157090200-157096800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:157091400-157096000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:157091600-157097200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:157091800-157108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:157091800-157142600	Weak transcription	Pancreas	Pancrea
10	chr3:157092000-157096000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:157094200-157106000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:157094200-157106000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:157094200-157106200	Weak transcription	NH-A	brain
14	chr3:157094600-157096400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:157095000-157096800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:157095000-157101200	Weak transcription	Fetal Brain Male	brain
17	chr3:157095000-157101400	Weak transcription	Fetal Lung	lung
18	chr3:157095000-157105200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:157095000-157105400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:157095200-157096400	Weak transcription	NHDF-Ad	bronchial
21	chr3:157095200-157098200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:157095200-157106600	Weak transcription	Osteobl	bone
23	chr3:157095800-157099200	Strong transcription	HUVEC	blood vessel
24	chr3:157096000-157097400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:157096000-157097600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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