Variant report

Variant	esv3426508
Chromosome Location	chr10:43461921-43464244
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	chr10:43463562..43467082-chr10:43469575..43473842,3	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559731264	chr10:43461945-43461946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578105543	chr10:43461946-43461947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558262940	chr10:43461991-43461992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187664317	chr10:43462066-43462067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563997571	chr10:43462083-43462084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531341106	chr10:43462104-43462105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190694269	chr10:43462177-43462178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561790732	chr10:43462217-43462218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528966000	chr10:43462276-43462277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554390157	chr10:43462305-43462306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182415572	chr10:43462330-43462331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112410888	chr10:43462352-43462353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533149064	chr10:43462363-43462364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2506036	chr10:43462426-43462427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569575728	chr10:43462441-43462442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537067319	chr10:43462466-43462467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144947477	chr10:43462528-43462529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373170851	chr10:43462588-43462589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369447662	chr10:43462589-43462590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60070763	chr10:43462607-43462608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200032371	chr10:43462618-43462619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373292590	chr10:43462628-43462629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377653586	chr10:43462640-43462641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371087493	chr10:43462642-43462643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374137505	chr10:43462646-43462647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369064471	chr10:43462652-43462653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567306003	chr10:43462668-43462669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534817471	chr10:43462670-43462671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377587766	chr10:43462672-43462673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60403879	chr10:43462673-43462674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202104607	chr10:43462674-43462675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370449819	chr10:43462675-43462676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374388398	chr10:43462676-43462677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11239846	chr10:43462677-43462678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553429181	chr10:43462729-43462730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186850281	chr10:43462751-43462752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545542392	chr10:43462761-43462762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190138934	chr10:43462780-43462781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182689773	chr10:43462885-43462886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12359391	chr10:43462942-43462943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12359392	chr10:43462949-43462950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367607080	chr10:43462960-43462961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543459024	chr10:43462961-43462962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561701361	chr10:43462977-43462978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193195790	chr10:43462992-43462993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528876243	chr10:43463009-43463010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201321821	chr10:43463017-43463018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71505654	chr10:43463024-43463025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559391775	chr10:43463089-43463090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112178221	chr10:43463102-43463103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43458600-43464800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr10:43458600-43464800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:43460600-43465800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr10:43461600-43462000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:43461600-43462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:43461800-43462000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:43462000-43465800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:43462000-43466000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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