Variant report

Variant	esv2759758
Chromosome Location	chr10:58490630-58689953
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:58550922..58552910-chr10:58558148..58559821,2	K562	blood:
2	chr10:58621047..58621938-chr15:50576510..50577380,2	MCF-7	breast:
3	chr10:58550922..58552910-chr10:58558148..58559821,2	K562	blood:
4	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:
5	chr10:58599935..58600523-chr14:31323462..31324054,2	MCF-7	breast:
6	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:
7	chr10:58424658..58425526-chr10:58543096..58544051,4	MCF-7	breast:
8	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:
9	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:
10	chr10:58424561..58425526-chr10:58543081..58543976,4	MCF-7	breast:

No data

Extended variants
information (count: 1463 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1463 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572755425	chr10:58505008-58505009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563338105	chr10:58505015-58505016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139562921	chr10:58505033-58505034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60880697	chr10:58505095-58505096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7924028	chr10:58505135-58505136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542621156	chr10:58505144-58505145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535052396	chr10:58505216-58505217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78115038	chr10:58505238-58505239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183727569	chr10:58505253-58505254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376819402	chr10:58505289-58505290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11005487	chr10:58505292-58505293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541771619	chr10:58505301-58505302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578212285	chr10:58505420-58505421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376548273	chr10:58505422-58505423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542162210	chr10:58505423-58505424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557089946	chr10:58505439-58505440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575660812	chr10:58505469-58505470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547587860	chr10:58505550-58505551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35724421	chr10:58505554-58505555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369958957	chr10:58505555-58505556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546343625	chr10:58505561-58505562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78112316	chr10:58505565-58505566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12572929	chr10:58505590-58505591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10825869	chr10:58505601-58505602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540918451	chr10:58505655-58505656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562450755	chr10:58505700-58505701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529562619	chr10:58505713-58505714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548127592	chr10:58505716-58505717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569564462	chr10:58505738-58505739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530491504	chr10:58505742-58505743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12265015	chr10:58505761-58505762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186105125	chr10:58511617-58511618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2025564	chr10:58511654-58511655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs117279062	chr10:58511832-58511833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115449221	chr10:58511859-58511860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575774885	chr10:58511880-58511881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539963243	chr10:58511892-58511893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377661109	chr10:58511907-58511908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7915402	chr10:58511952-58511953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573390202	chr10:58512029-58512030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540909005	chr10:58512030-58512031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564534649	chr10:58512062-58512063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141836484	chr10:58512132-58512133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374004402	chr10:58512151-58512152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554812309	chr10:58512156-58512157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147123887	chr10:58512184-58512185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541383969	chr10:58512193-58512194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188224352	chr10:58512196-58512197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527319034	chr10:58512197-58512198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530493004	chr10:58512222-58512223	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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:34 , 50 per page) page: 1

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

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