Variant report

Variant	esv3344759
Chromosome Location	chr10:50542796-50544694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50543997..50546975-chr10:50547216..50549247,2	K562	blood:
2	chr10:50539771..50543599-chr10:50573240..50575854,3	MCF-7	breast:
3	chr10:50536963..50540512-chr10:50542123..50548139,6	K562	blood:
4	chr10:50539229..50541098-chr10:50542834..50545078,2	MCF-7	breast:
5	chr10:50541425..50543053-chr10:50588433..50591403,2	MCF-7	breast:
6	chr10:50543283..50544862-chr10:50573036..50574648,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535585625	chr10:50542828-50542829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs189481755	chr10:50542832-50542833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565786638	chr10:50542856-50542857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144154065	chr10:50542874-50542875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191820101	chr10:50542957-50542958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116791198	chr10:50542988-50542989	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs114742499	chr10:50542989-50542990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542509006	chr10:50543095-50543096	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539246896	chr10:50543097-50543098	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112896547	chr10:50543108-50543109	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573764994	chr10:50543112-50543113	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184039472	chr10:50543120-50543121	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74565347	chr10:50543164-50543165	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577574111	chr10:50543165-50543166	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546144595	chr10:50543166-50543167	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564820682	chr10:50543209-50543210	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188031430	chr10:50543216-50543217	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142192041	chr10:50543240-50543241	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561982143	chr10:50543292-50543293	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200018910	chr10:50543299-50543300	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs180842320	chr10:50543313-50543314	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112920085	chr10:50543326-50543327	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140322629	chr10:50543375-50543376	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs72472028	chr10:50543407-50543408	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551359748	chr10:50543422-50543423	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575304922	chr10:50543460-50543461	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569911128	chr10:50543490-50543491	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs386743567	chr10:50543516-50543517	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140450853	chr10:50543519-50543520	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs117414435	chr10:50543525-50543526	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376314421	chr10:50543529-50543530	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368423559	chr10:50543530-50543531	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs150399483	chr10:50543540-50543541	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187003100	chr10:50543543-50543544	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138351299	chr10:50543547-50543548	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149212054	chr10:50543553-50543554	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368300764	chr10:50543554-50543555	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs146836815	chr10:50543557-50543558	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577535801	chr10:50543559-50543560	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs386743568	chr10:50543567-50543568	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544965348	chr10:50543576-50543577	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111597333	chr10:50543581-50543582	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377233111	chr10:50543583-50543584	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561894627	chr10:50543592-50543593	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530926208	chr10:50543595-50543596	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576662475	chr10:50543621-50543622	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs190786251	chr10:50543674-50543675	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371195741	chr10:50543685-50543686	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201125279	chr10:50543695-50543696	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12763884	chr10:50543741-50543742	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
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	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50531800-50547800	Weak transcription	Pancreas	Pancrea
2	chr10:50537600-50542800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:50537600-50542800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:50540200-50548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:50542800-50543800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:50542800-50544200	ZNF genes & repeats	Dnd41	blood
7	chr10:50543000-50543800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr10:50543200-50543800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:50543200-50543800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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