Variant report

Variant	nsv540651
Chromosome Location	chr10:58542054-58594031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58550922..58552910-chr10:58558148..58559821,2	K562	blood:
2	chr10:58424658..58425526-chr10:58543096..58544051,4	MCF-7	breast:
3	chr10:58550922..58552910-chr10:58558148..58559821,2	K562	blood:
4	chr10:58424561..58425526-chr10:58543081..58543976,4	MCF-7	breast:

Extended variants
information (count: 255 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148170499	chr10:58547026-58547027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186778954	chr10:58547055-58547056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536024837	chr10:58547091-58547092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554510747	chr10:58547093-58547094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576186124	chr10:58547124-58547125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543308970	chr10:58547136-58547137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562141237	chr10:58547176-58547177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546704688	chr10:58547183-58547184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190478028	chr10:58547191-58547192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74138924	chr10:58547205-58547206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1914554	chr10:58547220-58547221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559868665	chr10:58547221-58547222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530257990	chr10:58547222-58547223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142505015	chr10:58547256-58547257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146718621	chr10:58547266-58547267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7069239	chr10:58547289-58547290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552562003	chr10:58547307-58547308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183447843	chr10:58547379-58547380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550571710	chr10:58547382-58547383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16909435	chr10:58547388-58547389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547025541	chr10:58547409-58547410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs66736303	chr10:58547452-58547453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71465074	chr10:58547454-58547455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs398054390	chr10:58547456-58547457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565430256	chr10:58547474-58547475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536010014	chr10:58547539-58547540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1914553	chr10:58547551-58547552	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576120229	chr10:58547554-58547555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537270611	chr10:58547562-58547563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16909437	chr10:58547566-58547567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370917664	chr10:58547617-58547618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7923013	chr10:58547671-58547672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547875677	chr10:58547719-58547720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541426610	chr10:58547754-58547755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201465977	chr10:58547791-58547792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3070298	chr10:58547792-58547793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386371471	chr10:58547793-58547794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201414679	chr10:58547794-58547795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397720806	chr10:58547795-58547796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1914552	chr10:58547838-58547839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574889712	chr10:58547852-58547853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559043482	chr10:58547877-58547878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139278560	chr10:58547894-58547895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563821035	chr10:58547928-58547929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376132277	chr10:58547954-58547955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577141657	chr10:58547968-58547969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187787265	chr10:58547972-58547973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189271596	chr10:58567002-58567003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564369161	chr10:58567023-58567024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528474236	chr10:58567025-58567026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58547000-58548000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:58567000-58567200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:58567200-58568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:58567600-58568200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:58568000-58568400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr10:58568400-58568600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:58569800-58570200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:58580800-58583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:58582000-58582400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:58583600-58583800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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