Variant report

Variant	nsv1038755
Chromosome Location	chr10:59071887-59161413
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:59119517..59121118-chr10:59121352..59123797,2	K562	blood:
2	chr10:59098466..59099424-chr10:59352866..59354001,3	MCF-7	breast:
3	chr10:59098430..59099263-chr10:59609222..59610076,2	MCF-7	breast:
4	chr10:59141917..59143760-chr10:59167909..59170297,2	K562	blood:
5	chr10:59119517..59121118-chr10:59121352..59123797,2	K562	blood:
6	chr10:59098621..59099527-chr10:59416327..59417352,4	MCF-7	breast:
7	chr10:59098744..59099488-chr10:59416761..59417512,2	MCF-7	breast:
8	chr10:59098757..59099315-chr10:59825173..59825685,2	MCF-7	breast:
9	chr10:58981686..58984044-chr10:59073048..59074981,2	MCF-7	breast:

No data

Extended variants
information (count: 767 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12259466	chr10:59071887-59071888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545738988	chr10:59071925-59071926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114688039	chr10:59071935-59071936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115398545	chr10:59071959-59071960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567830507	chr10:59071997-59071998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147930170	chr10:59072003-59072004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561673981	chr10:59072053-59072054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141604729	chr10:59072082-59072083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147073507	chr10:59072094-59072095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528706530	chr10:59072200-59072201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138295555	chr10:59072221-59072222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539551122	chr10:59072261-59072262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551709605	chr10:59072277-59072278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566765573	chr10:59072278-59072279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377515510	chr10:59072294-59072295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114030643	chr10:59072300-59072301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556081985	chr10:59072305-59072306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574428295	chr10:59072313-59072314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547195065	chr10:59072364-59072365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186198851	chr10:59072398-59072399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556801707	chr10:59072415-59072416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564367516	chr10:59072431-59072432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545596232	chr10:59072436-59072437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564083461	chr10:59072527-59072528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572728957	chr10:59072543-59072544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199575245	chr10:59072585-59072586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200661008	chr10:59072595-59072596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190958541	chr10:59072659-59072660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182788040	chr10:59072671-59072672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533204506	chr10:59072703-59072704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187369406	chr10:59072723-59072724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562548961	chr10:59072771-59072772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115890182	chr10:59072781-59072782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551604129	chr10:59072805-59072806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16910475	chr10:59072867-59072868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113043320	chr10:59072903-59072904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201471549	chr10:59072930-59072931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191013685	chr10:59072932-59072933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183234781	chr10:59072933-59072934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115781949	chr10:59072944-59072945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375256215	chr10:59072949-59072950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538550967	chr10:59072966-59072967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571687077	chr10:59073033-59073034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376279816	chr10:59073103-59073104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6481269	chr10:59073143-59073144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551021373	chr10:59073169-59073170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567635026	chr10:59073207-59073208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141855703	chr10:59073249-59073250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150163370	chr10:59073342-59073343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557740492	chr10:59073362-59073363	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59071800-59072000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:59072000-59073000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:59073000-59074000	Enhancers	Brain Hippocampus Middle	brain
4	chr10:59073000-59075400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:59073400-59073800	Enhancers	Brain Cingulate Gyrus	brain
6	chr10:59073800-59074400	Active TSS	Brain Cingulate Gyrus	brain
7	chr10:59074000-59075000	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:59074000-59075400	Enhancers	Brain Angular Gyrus	brain
9	chr10:59075000-59075400	Enhancers	Brain Hippocampus Middle	brain
10	chr10:59080400-59083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:59081200-59081400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:59095800-59096200	Active TSS	Fetal Kidney	kidney
13	chr10:59096200-59096400	Flanking Active TSS	Fetal Kidney	kidney
14	chr10:59102600-59104800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr10:59110600-59111200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:59110600-59111200	Enhancers	Pancreas	Pancrea
17	chr10:59135400-59135800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:59155600-59156000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:59155600-59156000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:59155600-59156200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:59155600-59156400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:59155800-59156200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:59155800-59156200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr10:59155800-59156400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:59155800-59156600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr10:59155800-59156800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:59155800-59156800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr10:59156800-59158800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:59158800-59159200	Enhancers	HUES48 Cell Line	embryonic stem cell

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