Variant report

Variant	esv3315086
Chromosome Location	chr10:53869479-53870068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576038223	chr10:53869492-53869493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544883189	chr10:53869499-53869500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561273018	chr10:53869504-53869505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530078619	chr10:53869507-53869508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546965136	chr10:53869510-53869511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560430105	chr10:53869523-53869524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553302993	chr10:53869547-53869548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375740941	chr10:53869570-53869571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532616908	chr10:53869577-53869578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190854682	chr10:53869596-53869597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116896704	chr10:53869605-53869606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536971795	chr10:53869620-53869621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76271256	chr10:53869665-53869666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116280589	chr10:53869702-53869703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17562140	chr10:53869707-53869708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138293244	chr10:53869708-53869709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180726416	chr10:53869736-53869737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538708540	chr10:53869739-53869740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187353365	chr10:53869743-53869744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575733634	chr10:53869770-53869771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34389565	chr10:53869771-53869772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561610026	chr10:53869774-53869775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557969801	chr10:53869818-53869819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142963984	chr10:53869828-53869829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578110781	chr10:53869831-53869832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540298518	chr10:53869863-53869864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560524173	chr10:53869871-53869872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540738797	chr10:53869878-53869879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532514571	chr10:53869880-53869881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78699098	chr10:53869891-53869892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564739493	chr10:53869964-53869965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530578407	chr10:53870024-53870025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550350165	chr10:53870035-53870036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139025944	chr10:53870040-53870041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567269108	chr10:53870043-53870044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190947069	chr10:53870047-53870048	Weak transcription 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
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53865800-53869600	Weak transcription	Aorta	Aorta
2	chr10:53866000-53870200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr10:53867000-53869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:53867000-53872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:53867200-53869600	Weak transcription	Psoas Muscle	Psoas
6	chr10:53869600-53869800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:53869600-53870000	Enhancers	Psoas Muscle	Psoas
8	chr10:53869800-53870200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:53870000-53875200	Weak transcription	Psoas Muscle	Psoas

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