Variant report

Variant	esv3394687
Chromosome Location	chr3:24101146-24101496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72628135	chr3:24101152-24101153	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142621293	chr3:24101154-24101155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570509202	chr3:24101168-24101169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72628136	chr3:24101178-24101179	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189042615	chr3:24101220-24101221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568172983	chr3:24101230-24101231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10865794	chr3:24101270-24101271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377504532	chr3:24101272-24101273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113073855	chr3:24101291-24101292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551917838	chr3:24101307-24101308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113467356	chr3:24101315-24101316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566366771	chr3:24101319-24101320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555525681	chr3:24101321-24101322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535387796	chr3:24101322-24101323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572864657	chr3:24101327-24101328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60635484	chr3:24101328-24101329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10865795	chr3:24101342-24101343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537117435	chr3:24101344-24101345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557450386	chr3:24101349-24101350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573624701	chr3:24101380-24101381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542423049	chr3:24101398-24101399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563710479	chr3:24101412-24101413	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60706278	chr3:24101424-24101425	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24090800-24101400	Weak transcription	NHLF	lung
2	chr3:24100200-24102200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:24100400-24102000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr3:24100600-24101400	Enhancers	Aorta	Aorta
5	chr3:24100600-24101400	Enhancers	NHEK	skin
6	chr3:24100600-24102000	Enhancers	Stomach Smooth Muscle	stomach
7	chr3:24100800-24101400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:24100800-24101400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:24100800-24101400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:24100800-24101800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:24100800-24102000	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:24100800-24102200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:24100800-24102200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:24100800-24102200	Enhancers	HMEC	breast
15	chr3:24100800-24102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:24101000-24101400	Enhancers	Placenta	Placenta
17	chr3:24101000-24101800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:24101000-24101800	Enhancers	Left Ventricle	heart
19	chr3:24101000-24101800	Enhancers	Ovary	ovary
20	chr3:24101000-24102000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr3:24101000-24102200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:24101000-24102200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:24101000-24102200	Enhancers	Colon Smooth Muscle	Colon
24	chr3:24101000-24102200	Enhancers	NHDF-Ad	bronchial
25	chr3:24101200-24101400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:24101400-24101600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:24101400-24101600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:24101400-24101800	Flanking Active TSS	NHEK	skin
29	chr3:24101400-24102000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:24101400-24102000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:24101400-24102200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:24101400-24102200	Enhancers	NHLF	lung
33	chr3:24101400-24119200	Weak transcription	Aorta	Aorta

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