Variant report

Variant	esv3413163
Chromosome Location	chr10:52502296-52520694
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	chr10:52476123..52479908-chr10:52500945..52503926,3	K562	blood:

Extended variants
information (count: 364 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577535492	chr10:52502304-52502305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199570537	chr10:52502323-52502324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564227818	chr10:52502327-52502328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543540954	chr10:52502382-52502383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563213732	chr10:52502395-52502396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533459084	chr10:52502399-52502400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573823415	chr10:52502407-52502408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2820739	chr10:52502414-52502415	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs56033380	chr10:52502450-52502451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528397055	chr10:52502473-52502474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551672779	chr10:52502586-52502587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565297225	chr10:52502593-52502594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535430308	chr10:52502597-52502598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530796473	chr10:52502612-52502613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375438645	chr10:52502632-52502633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112930164	chr10:52502649-52502650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370992697	chr10:52502681-52502682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199824484	chr10:52502682-52502683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370588693	chr10:52502683-52502684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551101710	chr10:52502698-52502699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200791229	chr10:52502700-52502701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372083437	chr10:52502712-52502713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567646122	chr10:52502713-52502714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373985642	chr10:52502716-52502717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2820742	chr10:52502717-52502718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75066720	chr10:52502740-52502741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147249784	chr10:52502762-52502763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141006980	chr10:52502769-52502770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199913552	chr10:52502770-52502771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566698822	chr10:52502775-52502776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139833523	chr10:52502788-52502789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201056952	chr10:52502792-52502793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200222392	chr10:52502795-52502796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201084180	chr10:52502803-52502804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368746984	chr10:52502804-52502805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536636894	chr10:52502807-52502808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113060459	chr10:52502818-52502819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201972903	chr10:52502820-52502821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189336118	chr10:52502829-52502830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181791833	chr10:52502876-52502877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542696362	chr10:52502901-52502902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79274117	chr10:52502902-52502903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74472249	chr10:52502903-52502904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78477210	chr10:52502906-52502907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74880679	chr10:52502907-52502908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61857129	chr10:52502936-52502937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73322844	chr10:52502954-52502955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61857130	chr10:52502990-52502991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4445583	chr10:52503009-52503010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs2942767	chr10:52503048-52503049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52500600-52503200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:52500600-52503200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:52500600-52503400	Weak transcription	Fetal Lung	lung
4	chr10:52500600-52503600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:52500600-52505200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:52500600-52512200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:52500800-52503200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:52500800-52503400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:52500800-52507400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:52500800-52508600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:52501000-52506600	Weak transcription	Liver	Liver
12	chr10:52501000-52520200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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