Variant report

Variant	nsv467251
Chromosome Location	chr10:57008142-57035385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:57012609..57015608-chr6:34209555..34212466,2	K562	blood:
2	chr10:56856112..56857067-chr10:57023573..57024305,2	MCF-7	breast:
3	chr10:56851202..56852127-chr10:57023430..57024403,6	MCF-7	breast:
4	chr10:55757466..55757977-chr10:57022925..57023910,2	MCF-7	breast:

Extended variants
information (count: 394 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:394 , 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	rs2249500	chr10:57019821-57019822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570806494	chr10:57019848-57019849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539723885	chr10:57019909-57019910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556230938	chr10:57019935-57019936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569255413	chr10:57019947-57019948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569638535	chr10:57019968-57019969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144998923	chr10:57019972-57019973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555125383	chr10:57019988-57019989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10128303	chr10:57019989-57019990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540514788	chr10:57020039-57020040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554317618	chr10:57020043-57020044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113076872	chr10:57020054-57020055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185870700	chr10:57020087-57020088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77776282	chr10:57020152-57020153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546053389	chr10:57020166-57020167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2249476	chr10:57020179-57020180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531551798	chr10:57020208-57020209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200935397	chr10:57020255-57020256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542318477	chr10:57020258-57020259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111913962	chr10:57020260-57020261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190333632	chr10:57020261-57020262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527783510	chr10:57020286-57020287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147173999	chr10:57020336-57020337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140385792	chr10:57020371-57020372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533283176	chr10:57020395-57020396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2249383	chr10:57020436-57020437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569674613	chr10:57020453-57020454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534023441	chr10:57020472-57020473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377635767	chr10:57020475-57020476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548957251	chr10:57020545-57020546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565662373	chr10:57020585-57020586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534697748	chr10:57020588-57020589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558750596	chr10:57020608-57020609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183617260	chr10:57020629-57020630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576994647	chr10:57020638-57020639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114009013	chr10:57020761-57020762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145600319	chr10:57020762-57020763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577006603	chr10:57020765-57020766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187407308	chr10:57020780-57020781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541905852	chr10:57020782-57020783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192195988	chr10:57020791-57020792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112122220	chr10:57020792-57020793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541482536	chr10:57020798-57020799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34373357	chr10:57020808-57020809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558136724	chr10:57020827-57020828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374623785	chr10:57020832-57020833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371686647	chr10:57020835-57020836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149179656	chr10:57020856-57020857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550111891	chr10:57020911-57020912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142463793	chr10:57020940-57020941	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57019800-57020600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr10:57019800-57020800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr10:57019800-57020800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr10:57020200-57021000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:57020600-57026400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:57020800-57021000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:57020800-57024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:57021000-57026200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:57021000-57026600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:57022800-57023400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:57022800-57026400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:57023000-57023400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:57023000-57023400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:57024000-57024200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:57024000-57024200	Enhancers	Stomach Smooth Muscle	stomach
16	chr10:57024000-57024400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:57024200-57026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:57024400-57024600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:57024400-57026200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:57024600-57026200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:57026200-57026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr10:57026200-57026800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr10:57026200-57026800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr10:57026200-57027000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr10:57026200-57027000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr10:57026200-57027000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:57026400-57026800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr10:57026400-57026800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:57026400-57026800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr10:57026400-57026800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:57026400-57027000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr10:57026600-57026800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr10:57032400-57034000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:57032400-57034600	Enhancers	Fetal Brain Male	brain
35	chr10:57032600-57034600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:57033200-57033800	Enhancers	Fetal Brain Female	brain

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