Variant report

Variant	nsv551064
Chromosome Location	chr10:58457011-58702440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

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	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:
4	chr10:58458032..58460416-chr10:58460857..58463853,2	K562	blood:
5	chr10:58458032..58460416-chr10:58460857..58463853,2	K562	blood:
6	chr10:58599935..58600523-chr14:31323462..31324054,2	MCF-7	breast:
7	chr10:58621047..58621938-chr15:50576510..50577380,2	MCF-7	breast:
8	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:
9	chr10:58424561..58425526-chr10:58543081..58543976,4	MCF-7	breast:
10	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:
11	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:
12	chr10:58550922..58552910-chr10:58558148..58559821,2	K562	blood:

No data

Extended variants
information (count: 1686 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1686 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571525242	chr10:58458603-58458604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74481929	chr10:58458615-58458616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201932788	chr10:58458679-58458680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs398075190	chr10:58458683-58458684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558068118	chr10:58458808-58458809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77843108	chr10:58458814-58458815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182433620	chr10:58458826-58458827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187149944	chr10:58458848-58458849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543224901	chr10:58458862-58458863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139462700	chr10:58458889-58458890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576601108	chr10:58458918-58458919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201327012	chr10:58458927-58458928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76265085	chr10:58458933-58458934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558938880	chr10:58458948-58458949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191590942	chr10:58458952-58458953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61854664	chr10:58458953-58458954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376214684	chr10:58458981-58458982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184507611	chr10:58458990-58458991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114180255	chr10:58459021-58459022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542358919	chr10:58459052-58459053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546392952	chr10:58459107-58459108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74138773	chr10:58459110-58459111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543626509	chr10:58459138-58459139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374172368	chr10:58459144-58459145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532484633	chr10:58459219-58459220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148153385	chr10:58459220-58459221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547792023	chr10:58459262-58459263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377720708	chr10:58459293-58459294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188906941	chr10:58459305-58459306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192827118	chr10:58459325-58459326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559635610	chr10:58459390-58459391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143921898	chr10:58482612-58482613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114844052	chr10:58482623-58482624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140420248	chr10:58482673-58482674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16909265	chr10:58482756-58482757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144174087	chr10:58482805-58482806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147765942	chr10:58482830-58482831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564071874	chr10:58482851-58482852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542181800	chr10:58482853-58482854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117127199	chr10:58482860-58482861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546639619	chr10:58482981-58482982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568455083	chr10:58482984-58482985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11005460	chr10:58483043-58483044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11005461	chr10:58483093-58483094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141162459	chr10:58483105-58483106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180764622	chr10:58483123-58483124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546488469	chr10:58483131-58483132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375238912	chr10:58483132-58483133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540054717	chr10:58483196-58483197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572755425	chr10:58505008-58505009	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	22037309	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58458600-58459400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:58482600-58483200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:58482800-58483200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:58505000-58505600	Enhancers	HMEC	breast
5	chr10:58505400-58505800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:58511600-58512400	Enhancers	Brain Germinal Matrix	brain
7	chr10:58530400-58531200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr10:58547000-58548000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:58567000-58567200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:58567200-58568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:58567600-58568200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:58568000-58568400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:58568400-58568600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:58569800-58570200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:58580800-58583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:58582000-58582400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:58583600-58583800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:58597400-58598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:58604600-58605800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:58604800-58606200	Enhancers	Adipose Nuclei	Adipose
21	chr10:58618600-58636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:58621800-58622200	Enhancers	Fetal Lung	lung
23	chr10:58626800-58627400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:58636000-58636200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:58636200-58639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:58636400-58637000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:58639400-58640200	Enhancers	Fetal Lung	lung
28	chr10:58640200-58640800	Flanking Active TSS	Fetal Lung	lung
29	chr10:58640400-58640800	Enhancers	Adipose Nuclei	Adipose
30	chr10:58640400-58641200	Enhancers	Ovary	ovary
31	chr10:58640600-58641200	Enhancers	Fetal Stomach	stomach
32	chr10:58640800-58642000	Enhancers	Fetal Lung	lung
33	chr10:58641000-58641600	Enhancers	Fetal Kidney	kidney
34	chr10:58655200-58655800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:58676800-58677600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:58688600-58689200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:58688600-58689600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:58694600-58694800	ZNF genes & repeats	Gastric	stomach
39	chr10:58694600-58698000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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