Variant report

Variant	esv32989
Chromosome Location	chr10:50056451-50059418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50055067..50058340-chr10:50058746..50064053,6	K562	blood:
2	chr10:50054998..50056783-chr10:50058955..50061774,3	K562	blood:
3	chr10:50054998..50056783-chr10:50058955..50061774,3	K562	blood:
4	chr10:50055067..50058340-chr10:50058746..50064053,6	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189636251	chr10:50056480-50056481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530673476	chr10:50056491-50056492	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549000760	chr10:50056532-50056533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113033911	chr10:50056549-50056550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539893407	chr10:50056550-50056551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534593201	chr10:50056559-50056560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115920221	chr10:50056569-50056570	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530577723	chr10:50056604-50056605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202130007	chr10:50056607-50056608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181448441	chr10:50056621-50056622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2940711	chr10:50056622-50056623	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141048873	chr10:50056626-50056627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533871680	chr10:50056684-50056685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369792710	chr10:50056709-50056710	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35085842	chr10:50056752-50056753	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573730781	chr10:50056775-50056776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541004006	chr10:50056779-50056780	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372084333	chr10:50056789-50056790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533234694	chr10:50056796-50056797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118092860	chr10:50056819-50056820	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545693141	chr10:50056827-50056828	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375484062	chr10:50056834-50056835	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559227219	chr10:50056861-50056862	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567553715	chr10:50056873-50056874	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528123987	chr10:50056876-50056877	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143367558	chr10:50056894-50056895	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371747323	chr10:50056895-50056896	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186130598	chr10:50056928-50056929	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538315056	chr10:50056973-50056974	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558334084	chr10:50056999-50057000	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570201911	chr10:50057002-50057003	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372901850	chr10:50057011-50057012	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190114210	chr10:50057020-50057021	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555667767	chr10:50057021-50057022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181354891	chr10:50057040-50057041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555355545	chr10:50057184-50057185	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541042580	chr10:50057194-50057195	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575542140	chr10:50057210-50057211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35094772	chr10:50057228-50057229	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377267059	chr10:50057242-50057243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151076359	chr10:50057266-50057267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562369037	chr10:50057279-50057280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7094742	chr10:50057325-50057326	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs563791916	chr10:50057433-50057434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78340648	chr10:50057438-50057439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140966998	chr10:50057460-50057461	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561191372	chr10:50057462-50057463	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186694616	chr10:50057502-50057503	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190727315	chr10:50057518-50057519	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183021990	chr10:50057553-50057554	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:50015200-50063400	Strong transcription	Primary B cells from cord blood	blood
3	chr10:50016200-50063000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr10:50016200-50063000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:50016600-50062400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:50025000-50062800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:50028600-50070200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr10:50042200-50059200	Weak transcription	Primary T cells from cord blood	blood
9	chr10:50044600-50057200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:50052800-50062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:50053200-50058800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:50054400-50081600	Weak transcription	Spleen	Spleen
13	chr10:50055400-50059600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:50055400-50063000	Strong transcription	GM12878-XiMat	blood
15	chr10:50056800-50057000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:50057200-50059200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:50058800-50061200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr10:50059200-50060200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:50059200-50060600	Strong transcription	Primary T cells from cord blood	blood

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