Variant report

Variant	esv3314752
Chromosome Location	chr10:44808524-44810666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44804505..44808299-chr10:44810084..44813443,4	MCF-7	breast:
2	chr10:44803131..44805598-chr10:44807821..44810324,2	MCF-7	breast:
3	chr10:44803835..44808039-chr10:44810425..44813828,4	K562	blood:
4	chr10:44807407..44809673-chr10:44812820..44814323,2	K562	blood:
5	chr10:44806565..44809195-chr10:45358624..45361285,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190909348	chr10:44808548-44808549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372842682	chr10:44808555-44808556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573625094	chr10:44808566-44808567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149674932	chr10:44808594-44808595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564136944	chr10:44808643-44808644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563418295	chr10:44808658-44808659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531600951	chr10:44808708-44808709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543335897	chr10:44808887-44808888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561325486	chr10:44808942-44808943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528891902	chr10:44808979-44808980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144580973	chr10:44808982-44808983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565483843	chr10:44808989-44808990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532888062	chr10:44809033-44809034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185045310	chr10:44809035-44809036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570168929	chr10:44809046-44809047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139787424	chr10:44809111-44809112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117744944	chr10:44809157-44809158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532231909	chr10:44809230-44809231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377305201	chr10:44809233-44809234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567658110	chr10:44809248-44809249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544772724	chr10:44809291-44809292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535068569	chr10:44809306-44809307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553408001	chr10:44809313-44809314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189018346	chr10:44809375-44809376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578016978	chr10:44809388-44809389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545188359	chr10:44809391-44809392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557907599	chr10:44809421-44809422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576185799	chr10:44809430-44809431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11597271	chr10:44809438-44809439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192600135	chr10:44809479-44809480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184897175	chr10:44809532-44809533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561688067	chr10:44809554-44809555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368860270	chr10:44809587-44809588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564761533	chr10:44809650-44809651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145184509	chr10:44809676-44809677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559093968	chr10:44809724-44809725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533009603	chr10:44809735-44809736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367728778	chr10:44809763-44809764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147617200	chr10:44809884-44809885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563881896	chr10:44809897-44809898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142207998	chr10:44809899-44809900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79431580	chr10:44809912-44809913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567914489	chr10:44809976-44809977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535350066	chr10:44809981-44809982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188433511	chr10:44810077-44810078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142869245	chr10:44810093-44810094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180716791	chr10:44810098-44810099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557208805	chr10:44810102-44810103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576176045	chr10:44810115-44810116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186568079	chr10:44810120-44810121	Weak transcription Enhancers	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44806600-44810600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:44806600-44820800	Weak transcription	Right Atrium	heart
3	chr10:44807000-44808600	Enhancers	GM12878-XiMat	blood
4	chr10:44807000-44809400	Weak transcription	Brain Germinal Matrix	brain
5	chr10:44807200-44809600	Weak transcription	Right Ventricle	heart
6	chr10:44807200-44822200	Weak transcription	Left Ventricle	heart
7	chr10:44807400-44809200	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:44807400-44809400	Weak transcription	Fetal Heart	heart
9	chr10:44807600-44820800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:44808000-44809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:44808000-44810600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:44808000-44820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:44808200-44809200	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:44808600-44809800	Weak transcription	GM12878-XiMat	blood
15	chr10:44809000-44809200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:44809200-44809600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:44809200-44809800	Enhancers	Colon Smooth Muscle	Colon
18	chr10:44809200-44810800	Enhancers	Fetal Muscle Leg	muscle
19	chr10:44809400-44809600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr10:44809400-44810000	Enhancers	Brain Germinal Matrix	brain
21	chr10:44809400-44810000	Enhancers	Fetal Heart	heart
22	chr10:44809600-44809800	Enhancers	Right Ventricle	heart
23	chr10:44809600-44810000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:44809600-44810000	Enhancers	Fetal Thymus	thymus
25	chr10:44809800-44810000	Enhancers	GM12878-XiMat	blood
26	chr10:44810000-44811200	Weak transcription	Fetal Thymus	thymus
27	chr10:44810600-44811400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:44810600-44811400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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