Variant report

Variant	esv3436802
Chromosome Location	chr3:21731273-21731717
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	chr3:21731209..21733494-chr3:21734239..21737036,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73042130	chr3:21731281-21731282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375512434	chr3:21731378-21731379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145800510	chr3:21731379-21731380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397875363	chr3:21731380-21731381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75439714	chr3:21731392-21731393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5847127	chr3:21731393-21731394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530738163	chr3:21731419-21731420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571881516	chr3:21731442-21731443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189555358	chr3:21731460-21731461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180696123	chr3:21731462-21731463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117131954	chr3:21731464-21731465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137994073	chr3:21731478-21731479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116388596	chr3:21731547-21731548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550749303	chr3:21731555-21731556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2054945	chr3:21731567-21731568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547547944	chr3:21731568-21731569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567526845	chr3:21731570-21731571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557800547	chr3:21731602-21731603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561560179	chr3:21731612-21731613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141723857	chr3:21731626-21731627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534177289	chr3:21731638-21731639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544758377	chr3:21731671-21731672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201469365	chr3:21731684-21731685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2054944	chr3:21731697-21731698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21724000-21736000	Weak transcription	NHDF-Ad	bronchial
2	chr3:21724600-21746400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:21724800-21735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:21729000-21736800	Weak transcription	Aorta	Aorta
5	chr3:21729600-21735600	Weak transcription	Fetal Stomach	stomach

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