Variant report

Variant	nsv550967
Chromosome Location	chr10:56301550-56321182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188182405	chr10:56309687-56309688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530371744	chr10:56309710-56309711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540478124	chr10:56309767-56309768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534010660	chr10:56309799-56309800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1219795	chr10:56309812-56309813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9787572	chr10:56309825-56309826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552327429	chr10:56309863-56309864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544199156	chr10:56309948-56309949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375052790	chr10:56309978-56309979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138033104	chr10:56310009-56310010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180982135	chr10:56310042-56310043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142011864	chr10:56310044-56310045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574580378	chr10:56310080-56310081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61853622	chr10:56310116-56310117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547292613	chr10:56310117-56310118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559631332	chr10:56310128-56310129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185646661	chr10:56310130-56310131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570598026	chr10:56310158-56310159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539235242	chr10:56310168-56310169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558661571	chr10:56310177-56310178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114650311	chr10:56310181-56310182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537850639	chr10:56310206-56310207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201576041	chr10:56310248-56310249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566291877	chr10:56310249-56310250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59286214	chr10:56310268-56310269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71010384	chr10:56310269-56310270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9787425	chr10:56310279-56310280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150457941	chr10:56310286-56310287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540892471	chr10:56310295-56310296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560599094	chr10:56310297-56310298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113245777	chr10:56310319-56310320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190412316	chr10:56310323-56310324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138265340	chr10:56310352-56310353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149652681	chr10:56310361-56310362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546408962	chr10:56310398-56310399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562618026	chr10:56310431-56310432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115582503	chr10:56310447-56310448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11004378	chr10:56310482-56310483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561693753	chr10:56310494-56310495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527614251	chr10:56310525-56310526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115614240	chr10:56310535-56310536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144378424	chr10:56310564-56310565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147566875	chr10:56310590-56310591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375436565	chr10:56314431-56314432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556562725	chr10:56314475-56314476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2384471	chr10:56314480-56314481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191493288	chr10:56314493-56314494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536230753	chr10:56314505-56314506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553035903	chr10:56314539-56314540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1930142	chr10:56314548-56314549	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	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
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56309600-56310600	Enhancers	HUVEC	blood vessel
2	chr10:56314400-56315000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:56317000-56317400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:56317400-56319000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:56319000-56320000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:56319200-56320000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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