Variant report

Variant	esv3347644
Chromosome Location	chr2:181825260-181825583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:181796832..181799715-chr2:181825306..181827387,2	MCF-7	breast:
2	chr2:181823528..181825783-chr2:181849129..181851147,2	K562	blood:
3	chr2:181825164..181827909-chr2:181831566..181833281,2	K562	blood:

Variant related genes	Relation type
ENSG00000170035	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566299208	chr2:181825263-181825264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139271638	chr2:181825265-181825266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187700374	chr2:181825274-181825275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558635583	chr2:181825310-181825311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549337422	chr2:181825333-181825334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4471850	chr2:181825338-181825339	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556688105	chr2:181825350-181825351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573637501	chr2:181825361-181825362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535954698	chr2:181825380-181825381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552720445	chr2:181825390-181825391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572677300	chr2:181825419-181825420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs207462693	chr2:181825452-181825453	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576092197	chr2:181825520-181825521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538195107	chr2:181825575-181825576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD

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

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