Variant report

Variant	esv3383538
Chromosome Location	chr5:118965560-118965931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374554499	chr5:118965566-118965567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376574726	chr5:118965567-118965568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201039617	chr5:118965572-118965573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2431372	chr5:118965609-118965610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574706100	chr5:118965621-118965622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2434599	chr5:118965623-118965624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555945831	chr5:118965625-118965626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373882255	chr5:118965635-118965636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532479407	chr5:118965678-118965679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552187695	chr5:118965703-118965704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113665724	chr5:118965727-118965728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2431371	chr5:118965731-118965732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539212879	chr5:118965733-118965734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528059939	chr5:118965736-118965737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547897600	chr5:118965738-118965739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112671691	chr5:118965747-118965748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567789047	chr5:118965777-118965778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192345127	chr5:118965778-118965779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112873880	chr5:118965819-118965820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113716798	chr5:118965828-118965829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112510269	chr5:118965837-118965838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540240047	chr5:118965844-118965845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373979067	chr5:118965845-118965846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35312547	chr5:118965860-118965861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373090174	chr5:118965880-118965881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558969763	chr5:118965882-118965883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572417920	chr5:118965924-118965925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118964200-118969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:118964400-118966600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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