Variant report

Variant	esv3424479
Chromosome Location	chr10:57021896-57026338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:56856112..56857067-chr10:57023573..57024305,2	MCF-7	breast:
2	chr10:55757466..55757977-chr10:57022925..57023910,2	MCF-7	breast:
3	chr10:56851202..56852127-chr10:57023430..57024403,6	MCF-7	breast:

Extended variants
information (count: 193 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72803827	chr10:57021926-57021927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375222470	chr10:57022019-57022020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112948471	chr10:57022021-57022022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544497062	chr10:57022025-57022026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369725548	chr10:57022028-57022029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530501173	chr10:57022084-57022085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11387686	chr10:57022101-57022102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138353705	chr10:57022169-57022170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111864090	chr10:57022179-57022180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529990972	chr10:57022183-57022184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570199183	chr10:57022202-57022203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2099989	chr10:57022211-57022212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2084009	chr10:57022215-57022216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565952230	chr10:57022242-57022243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535061911	chr10:57022250-57022251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558182755	chr10:57022252-57022253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2084008	chr10:57022270-57022271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543899674	chr10:57022297-57022298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556896557	chr10:57022304-57022305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375645870	chr10:57022342-57022343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573731345	chr10:57022350-57022351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79646077	chr10:57022401-57022402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559639158	chr10:57022411-57022412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370872338	chr10:57022460-57022461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141292950	chr10:57022472-57022473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372895237	chr10:57022488-57022489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529821650	chr10:57022508-57022509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552216727	chr10:57022613-57022614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150152709	chr10:57022651-57022652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543493162	chr10:57022656-57022657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114323014	chr10:57022724-57022725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529451521	chr10:57022731-57022732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138589050	chr10:57022742-57022743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569863320	chr10:57022745-57022746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570715671	chr10:57022769-57022770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538016044	chr10:57022804-57022805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556711364	chr10:57022805-57022806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149286962	chr10:57022831-57022832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117076267	chr10:57022851-57022852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144633436	chr10:57022894-57022895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537543800	chr10:57022911-57022912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557384406	chr10:57022930-57022931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192986889	chr10:57022936-57022937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542852824	chr10:57022946-57022947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563317047	chr10:57022987-57022988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572836413	chr10:57023026-57023027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138186625	chr10:57023030-57023031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544869965	chr10:57023037-57023038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564561505	chr10:57023053-57023054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532126478	chr10:57023118-57023119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Obesity	21956041	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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57020600-57026400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:57020800-57024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:57021000-57026200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:57021000-57026600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:57022800-57023400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:57022800-57026400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:57023000-57023400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:57023000-57023400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:57024000-57024200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:57024000-57024200	Enhancers	Stomach Smooth Muscle	stomach
11	chr10:57024000-57024400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:57024200-57026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:57024400-57024600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:57024400-57026200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:57024600-57026200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:57026200-57026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:57026200-57026800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr10:57026200-57026800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:57026200-57027000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:57026200-57027000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr10:57026200-57027000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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