Variant report

Variant	esv3504009
Chromosome Location	chr5:117387002-117394110
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	chr5:117393514..117395795-chr9:96212246..96215185,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188938	chromatin interactions
ENSG00000048828	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34824678	chr5:117393591-117393592	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184991243	chr5:117393623-117393624	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368445780	chr5:117393636-117393637	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372825830	chr5:117393654-117393655	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376616303	chr5:117393715-117393716	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565136831	chr5:117393717-117393718	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572345143	chr5:117393896-117393897	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540265629	chr5:117393913-117393914	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs144206292	chr5:117393914-117393915	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190327087	chr5:117393920-117393921	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192585308	chr5:117393921-117393922	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146056468	chr5:117393922-117393923	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140204771	chr5:117393967-117393968	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184821405	chr5:117393968-117393969	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs188654838	chr5:117393973-117393974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs367869041	chr5:117393980-117393981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571602686	chr5:117394002-117394003	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534533189	chr5:117394031-117394032	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs180822281	chr5:117394044-117394045	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567221191	chr5:117394050-117394051	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535893929	chr5:117394076-117394077	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	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
chromosomal regions: chr1:12345-34567

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