Variant report

Variant	esv1838593
Chromosome Location	chr10:56446495-56469288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 328 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139946609	chr10:56448606-56448607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181341434	chr10:56448653-56448654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139823516	chr10:56448728-56448729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149784089	chr10:56448780-56448781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377468568	chr10:56448808-56448809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185559741	chr10:56448869-56448870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557023909	chr10:56448883-56448884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16906408	chr10:56448886-56448887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189099796	chr10:56448904-56448905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553064387	chr10:56448932-56448933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573516066	chr10:56448979-56448980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545356357	chr10:56448990-56448991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534587088	chr10:56449057-56449058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565520825	chr10:56449071-56449072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575901000	chr10:56449087-56449088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544778421	chr10:56449102-56449103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528320301	chr10:56449160-56449161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560971034	chr10:56449197-56449198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529788883	chr10:56449246-56449247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557754811	chr10:56449274-56449275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559874730	chr10:56449275-56449276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181437981	chr10:56449335-56449336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577832959	chr10:56449346-56449347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186067448	chr10:56449363-56449364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145697499	chr10:56449382-56449383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141681980	chr10:56449395-56449396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376050783	chr10:56449396-56449397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115145945	chr10:56449425-56449426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536333341	chr10:56449439-56449440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192455853	chr10:56449452-56449453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183789577	chr10:56449467-56449468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539361406	chr10:56449480-56449481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546496779	chr10:56449497-56449498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564926077	chr10:56449672-56449673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559304329	chr10:56449675-56449676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147066282	chr10:56449686-56449687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114082012	chr10:56449714-56449715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377491916	chr10:56449755-56449756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565286370	chr10:56449759-56449760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574616052	chr10:56449809-56449810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529629987	chr10:56449868-56449869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368834452	chr10:56449873-56449874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186180969	chr10:56449921-56449922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71461252	chr10:56449922-56449923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560138272	chr10:56449923-56449924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532000233	chr10:56449931-56449932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545742637	chr10:56449960-56449961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562445701	chr10:56449961-56449962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201733434	chr10:56449962-56449963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147685429	chr10:56450031-56450032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56448600-56449000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr10:56449000-56451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr10:56450200-56452800	Enhancers	Fetal Lung	lung
4	chr10:56450800-56451600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:56451000-56451600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:56451200-56451600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:56458000-56459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:56466400-56471000	Enhancers	Fetal Lung	lung
9	chr10:56466600-56469000	Enhancers	Fetal Brain Male	brain
10	chr10:56467600-56468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:56468600-56469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:56469200-56470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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