Variant report

Variant	esv3429859
Chromosome Location	chr10:43547313-43548976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43539819..43542010-chr10:43547836..43549508,2	MCF-7	breast:
2	chr10:43531524..43548583-chr10:43564333..43580527,54	MCF-7	breast:
3	chr10:43540789..43543253-chr10:43544973..43547558,2	MCF-7	breast:
4	chr10:43544147..43547451-chr10:43554029..43556833,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165731	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144050963	chr10:43547316-43547317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368519108	chr10:43547369-43547370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531882887	chr10:43547391-43547392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368896019	chr10:43547396-43547397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150190718	chr10:43547440-43547441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56856882	chr10:43547472-43547473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553000519	chr10:43547535-43547536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146445776	chr10:43547566-43547567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569954036	chr10:43547600-43547601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557672589	chr10:43547613-43547614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75294120	chr10:43547642-43547643	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2742250	chr10:43547646-43547647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555418788	chr10:43547669-43547670	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375107694	chr10:43547698-43547699	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139921598	chr10:43547704-43547705	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559487358	chr10:43547734-43547735	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577802084	chr10:43547738-43547739	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142145800	chr10:43547739-43547740	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563469728	chr10:43547744-43547745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530728666	chr10:43547772-43547773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377371780	chr10:43547806-43547807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180710540	chr10:43547832-43547833	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560947790	chr10:43547871-43547872	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576266156	chr10:43547896-43547897	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545264294	chr10:43547948-43547949	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528461736	chr10:43547971-43547972	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546727507	chr10:43547978-43547979	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571637611	chr10:43547979-43547980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539252513	chr10:43547989-43547990	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550918161	chr10:43548005-43548006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34465960	chr10:43548116-43548117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376469563	chr10:43548140-43548141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552624375	chr10:43548154-43548155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569400166	chr10:43548218-43548219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536956745	chr10:43548234-43548235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555255236	chr10:43548249-43548250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573727527	chr10:43548250-43548251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116513598	chr10:43548280-43548281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553061169	chr10:43548282-43548283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2506003	chr10:43548290-43548291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs151233216	chr10:43548322-43548323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185327592	chr10:43548326-43548327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111925572	chr10:43548400-43548401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190135052	chr10:43548458-43548459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150201265	chr10:43548499-43548500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs80003440	chr10:43548500-43548501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542557235	chr10:43548530-43548531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560837329	chr10:43548621-43548622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111880648	chr10:43548632-43548633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147873269	chr10:43548639-43548640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43540200-43556600	Weak transcription	Spleen	Spleen
2	chr10:43540400-43547600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr10:43542400-43553600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43547600-43548000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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