Variant report

Variant	esv3372796
Chromosome Location	chr10:789177-791725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr10:791601-792092	HEK293	kidney:	n/a	n/a
2	POLR2A	chr10:791165-791188	Gliobla	brain:	n/a	n/a
3	SETDB1	chr10:791573-792113	U2OS	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-4	chr10:789932-789973	XLOC_008335
2	lnc-C10orf108-4	chr10:790517-790898	XLOC_008335

Variant related genes	Relation type
ENSG00000231601	TF binding region
SEC24A	miRNA target sites
SEC23IP	miRNA target sites

Extended variants
information (count: 120 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114538088	chr10:789251-789252	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs188677925	chr10:789261-789262	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs376550274	chr10:789302-789303	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs545777314	chr10:789384-789385	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs550091667	chr10:789407-789408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140553987	chr10:789416-789417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191580515	chr10:789421-789422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10904556	chr10:789429-789430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571328	chr10:789437-789438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74642423	chr10:789452-789453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150469825	chr10:789467-789468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183867992	chr10:789476-789477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537388801	chr10:789482-789483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557215811	chr10:789488-789489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138325025	chr10:789513-789514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80330235	chr10:789514-789515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553441697	chr10:789533-789534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142662390	chr10:789536-789537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545517319	chr10:789540-789541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12570980	chr10:789550-789551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117737511	chr10:789552-789553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575696061	chr10:789627-789628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117152977	chr10:789630-789631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563411021	chr10:789631-789632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141891081	chr10:789670-789671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529099465	chr10:789695-789696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188209297	chr10:789701-789702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545379993	chr10:789719-789720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145747068	chr10:789749-789750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11253396	chr10:789754-789755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11253397	chr10:789774-789775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1769214	chr10:789780-789781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536628109	chr10:789789-789790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550878029	chr10:789837-789838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567822826	chr10:789881-789882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376993447	chr10:789903-789904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114341118	chr10:789904-789905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567047757	chr10:789917-789918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138682176	chr10:789923-789924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559075347	chr10:789952-789953	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs11253398	chr10:790012-790013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11253399	chr10:790030-790031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557229366	chr10:790031-790032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573805241	chr10:790034-790035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542903481	chr10:790046-790047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559323723	chr10:790048-790049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180704060	chr10:790050-790051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544731162	chr10:790053-790054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375328117	chr10:790066-790067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553944830	chr10:790076-790077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:784000-790600	Weak transcription	Spleen	Spleen
2	chr10:789000-789400	Bivalent Enhancer	HepG2	liver
3	chr10:790600-790800	Active TSS	Spleen	Spleen

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