Variant report

Variant	nsv550939
Chromosome Location	chr10:55418647-55447975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 667 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1343016	chr10:55418647-55418648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558391627	chr10:55418653-55418654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575264955	chr10:55418707-55418708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544429908	chr10:55418723-55418724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563443357	chr10:55418725-55418726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561020127	chr10:55418727-55418728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529904376	chr10:55418755-55418756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137987699	chr10:55418799-55418800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540566391	chr10:55418802-55418803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560373382	chr10:55418864-55418865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576815331	chr10:55418905-55418906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149476494	chr10:55418920-55418921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565242872	chr10:55418950-55418951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114757073	chr10:55418974-55418975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550659302	chr10:55418979-55418980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567564339	chr10:55419008-55419009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536436340	chr10:55419072-55419073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547008785	chr10:55419117-55419118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16937635	chr10:55419137-55419138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4607982	chr10:55419185-55419186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140118393	chr10:55419193-55419194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187376643	chr10:55419213-55419214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs825821	chr10:55419221-55419222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191205131	chr10:55419235-55419236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2384300	chr10:55419287-55419288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540400026	chr10:55419288-55419289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550916815	chr10:55419298-55419299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76490490	chr10:55419311-55419312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545792105	chr10:55419345-55419346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376372676	chr10:55419370-55419371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559050966	chr10:55419390-55419391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571151003	chr10:55419407-55419408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182248856	chr10:55419408-55419409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565325767	chr10:55419446-55419447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530807161	chr10:55419450-55419451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2384301	chr10:55419536-55419537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143968805	chr10:55419567-55419568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530255039	chr10:55419569-55419570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571867514	chr10:55419574-55419575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547137753	chr10:55419605-55419606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567061438	chr10:55419616-55419617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185433110	chr10:55419678-55419679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552592944	chr10:55419711-55419712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568904033	chr10:55419735-55419736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537817911	chr10:55419762-55419763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2153950	chr10:55419770-55419771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574548252	chr10:55419793-55419794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533754747	chr10:55419807-55419808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553882779	chr10:55419823-55419824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11003742	chr10:55419829-55419830	Weak transcription	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
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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
2	chr10:55422400-55423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:55423000-55423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
9	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr10:55424200-55424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:55424200-55424400	Active TSS	Adipose Nuclei	Adipose
15	chr10:55424200-55424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:55424200-55424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr10:55424200-55424600	Active TSS	Fetal Kidney	kidney
18	chr10:55424200-55424600	Active TSS	Stomach Smooth Muscle	stomach
19	chr10:55424200-55424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:55424200-55424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr10:55424200-55424800	Flanking Active TSS	Fetal Lung	lung
22	chr10:55424200-55424800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr10:55424200-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:55424200-55425000	Enhancers	Fetal Heart	heart
25	chr10:55424200-55425000	Enhancers	Fetal Intestine Small	intestine
26	chr10:55424200-55425000	Enhancers	Fetal Stomach	stomach
27	chr10:55424400-55424600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:55424400-55424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:55424400-55424800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr10:55424400-55424800	Enhancers	Liver	Liver
31	chr10:55424400-55424800	Enhancers	Brain Anterior Caudate	brain
32	chr10:55424400-55424800	Enhancers	Colonic Mucosa	Colon
33	chr10:55424400-55424800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr10:55424400-55424800	Enhancers	Ovary	ovary
35	chr10:55424400-55424800	Enhancers	Right Ventricle	heart
36	chr10:55424400-55425000	Enhancers	Fetal Muscle Leg	muscle
37	chr10:55424600-55424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:55424600-55424800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:55424600-55424800	Flanking Active TSS	Fetal Kidney	kidney
40	chr10:55424600-55424800	Enhancers	Left Ventricle	heart
41	chr10:55424600-55424800	Enhancers	Pancreas	Pancrea
42	chr10:55424600-55424800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr10:55424600-55424800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr10:55424600-55424800	Enhancers	HMEC	breast
45	chr10:55424600-55425000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:55424600-55425000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:55424600-55425000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:55424600-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:55424800-55425000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:55424800-55425000	Enhancers	Fetal Kidney	kidney

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