Variant report

Variant	esv3365608
Chromosome Location	chr3:17679898-17680230
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	chr3:17679433..17681398-chr3:17682800..17684516,2	K562	blood:
2	chr3:17667671..17669916-chr3:17678475..17680012,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188430567	chr3:17679900-17679901	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180904377	chr3:17679930-17679931	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73167510	chr3:17679932-17679933	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567413836	chr3:17679999-17680000	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150454964	chr3:17680029-17680030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544960266	chr3:17680041-17680042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs114545258	chr3:17680044-17680045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577155988	chr3:17680052-17680053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530424161	chr3:17680068-17680069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372061753	chr3:17680083-17680084	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114785039	chr3:17680129-17680130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184916486	chr3:17680181-17680182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17650800-17681200	Weak transcription	Aorta	Aorta
2	chr3:17656000-17681200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:17657800-17681200	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:17664800-17688600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:17664800-17689000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:17668800-17706200	Weak transcription	Primary B cells from cord blood	blood
7	chr3:17673400-17680400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:17673400-17681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:17674000-17690800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:17674200-17681000	Weak transcription	HSMMtube	muscle
11	chr3:17674200-17687600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:17674400-17680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:17674800-17680000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:17677200-17680000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:17677200-17681000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:17677400-17681000	Weak transcription	K562	blood
17	chr3:17677400-17681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:17677600-17681000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:17677600-17681200	Weak transcription	Left Ventricle	heart
20	chr3:17677600-17681200	Weak transcription	Right Atrium	heart
21	chr3:17677600-17686800	Weak transcription	Small Intestine	intestine
22	chr3:17677800-17680000	Weak transcription	NH-A	brain
23	chr3:17679200-17680400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:17679200-17680600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:17679200-17680800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr3:17679200-17681000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:17679200-17681200	Enhancers	NHDF-Ad	bronchial
28	chr3:17679200-17681400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:17679200-17681600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr3:17679200-17681800	Enhancers	HMEC	breast
31	chr3:17679400-17680200	Flanking Active TSS	A549	lung
32	chr3:17679400-17681000	Enhancers	Osteobl	bone
33	chr3:17679400-17683000	Enhancers	NHLF	lung
34	chr3:17679600-17680000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:17679600-17681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:17679600-17681800	Enhancers	Hela-S3	cervix
37	chr3:17679600-17682000	Enhancers	HSMM	muscle
38	chr3:17679800-17680000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:17679800-17680000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:17679800-17680000	Enhancers	Adipose Nuclei	Adipose
41	chr3:17679800-17681000	Enhancers	NHEK	skin
42	chr3:17679800-17681200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:17679800-17681800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:17679800-17682600	Enhancers	HUVEC	blood vessel
45	chr3:17680000-17680400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:17680000-17680400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:17680000-17680600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:17680000-17681000	Weak transcription	Adipose Nuclei	Adipose
49	chr3:17680000-17681000	Enhancers	NH-A	brain
50	chr3:17680000-17681800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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