Variant report

Variant	esv3384285
Chromosome Location	chr10:117955212-117957410
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	chr10:117950683..117953153-chr10:117956990..117959643,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560838039	chr10:117955228-117955229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs531461425	chr10:117955231-117955232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139810181	chr10:117955241-117955242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186003209	chr10:117955252-117955253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567376186	chr10:117955304-117955305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552109212	chr10:117955374-117955375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567129776	chr10:117955377-117955378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs527904179	chr10:117955382-117955383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549527920	chr10:117955466-117955467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567738645	chr10:117955471-117955472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538374986	chr10:117955485-117955486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs146207745	chr10:117955500-117955501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200247289	chr10:117955601-117955602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374398260	chr10:117955607-117955608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2917947	chr10:117955614-117955615	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538605953	chr10:117955615-117955616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553663360	chr10:117955652-117955653	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2577376	chr10:117955687-117955688	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138710936	chr10:117955704-117955705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536380483	chr10:117955705-117955706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576033171	chr10:117955706-117955707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542533747	chr10:117955718-117955719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554781854	chr10:117955745-117955746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576149114	chr10:117955766-117955767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs527607666	chr10:117955778-117955779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543553356	chr10:117955786-117955787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116492461	chr10:117955858-117955859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532155356	chr10:117955861-117955862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540993943	chr10:117955900-117955901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560790752	chr10:117955909-117955910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190857247	chr10:117955916-117955917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549400828	chr10:117955939-117955940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs181464808	chr10:117955980-117955981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185674428	chr10:117955988-117955989	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545658237	chr10:117956005-117956006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550256742	chr10:117956007-117956008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190777044	chr10:117956014-117956015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538667171	chr10:117956017-117956018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553775886	chr10:117956041-117956042	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs10885874	chr10:117956063-117956064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182962315	chr10:117956067-117956068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs77161294	chr10:117956072-117956073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200273410	chr10:117956083-117956084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs35918701	chr10:117956087-117956088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs377115326	chr10:117956089-117956090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369419291	chr10:117956090-117956091	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373374789	chr10:117956097-117956098	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71967438	chr10:117956109-117956110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12773394	chr10:117956110-117956111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544529437	chr10:117956112-117956113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:117954600-117956800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:117954800-117955400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:117954800-117955400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:117954800-117955600	ZNF genes & repeats	Liver	Liver
5	chr10:117954800-117956000	ZNF genes & repeats	Fetal Stomach	stomach
6	chr10:117955000-117955400	ZNF genes & repeats	Pancreas	Pancrea
7	chr10:117955400-117957200	Weak transcription	Pancreas	Pancrea
8	chr10:117955400-117959000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:117955400-117966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:117956000-117962800	Weak transcription	Fetal Stomach	stomach
11	chr10:117956800-117967200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:117957400-117957600	Enhancers	Pancreas	Pancrea

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