Variant report

Variant	esv3353222
Chromosome Location	chr3:94650093-94650321
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	chr3:94649439..94652058-chr3:94652973..94655338,2	MCF-7	breast:
2	chr3:94646635..94650609-chr3:94654711..94656802,3	K562	blood:

Variant related genes	Relation type
ENSG00000242911	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557660426	chr3:94650100-94650101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112474389	chr3:94650102-94650103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543048749	chr3:94650127-94650128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549428184	chr3:94650133-94650134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369536133	chr3:94650138-94650139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559843740	chr3:94650157-94650158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528598863	chr3:94650199-94650200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541194299	chr3:94650226-94650227	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564259749	chr3:94650230-94650231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77513499	chr3:94650231-94650232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11919926	chr3:94650262-94650263	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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