Variant report

Variant	nsv948009
Chromosome Location	chr10:53692468-53694473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550025653	chr10:53692552-53692553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539054476	chr10:53692554-53692555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555829887	chr10:53692607-53692608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569442311	chr10:53692619-53692620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139505379	chr10:53692626-53692627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555506178	chr10:53692659-53692660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187021806	chr10:53692686-53692687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569985307	chr10:53692697-53692698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541319425	chr10:53692709-53692710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17638883	chr10:53692726-53692727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577950397	chr10:53692757-53692758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543885975	chr10:53692767-53692768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61847480	chr10:53692824-53692825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs367946935	chr10:53692852-53692853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145109381	chr10:53692861-53692862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576356345	chr10:53692863-53692864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543156996	chr10:53692868-53692869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561700983	chr10:53692878-53692879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113945701	chr10:53692879-53692880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547334410	chr10:53692909-53692910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7904729	chr10:53692910-53692911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532762179	chr10:53692917-53692918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558010188	chr10:53692949-53692950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7920008	chr10:53692969-53692970	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569327854	chr10:53692977-53692978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535150818	chr10:53692991-53692992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76017992	chr10:53693037-53693038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10823903	chr10:53693075-53693076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191562107	chr10:53693091-53693092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558165438	chr10:53693127-53693128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572455045	chr10:53693128-53693129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147598272	chr10:53693139-53693140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557355531	chr10:53693178-53693179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183669212	chr10:53693179-53693180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142085033	chr10:53693200-53693201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188081273	chr10:53693249-53693250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527485632	chr10:53693270-53693271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541266853	chr10:53693324-53693325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138778878	chr10:53693380-53693381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398114328	chr10:53693392-53693393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557197589	chr10:53693406-53693407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541366376	chr10:53693420-53693421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145528239	chr10:53693446-53693447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561285485	chr10:53693473-53693474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376065297	chr10:53693504-53693505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4935292	chr10:53693513-53693514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4935293	chr10:53693565-53693566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75061647	chr10:53693568-53693569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532379463	chr10:53693574-53693575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548798186	chr10:53693580-53693581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Cancer	20164920	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53680200-53694600	Weak transcription	Aorta	Aorta
2	chr10:53688200-53694200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:53688400-53694400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:53692000-53692600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:53692200-53692600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:53692200-53692600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr10:53692200-53692600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:53692200-53692600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr10:53692200-53692600	Enhancers	Fetal Muscle Leg	muscle
10	chr10:53692200-53693000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:53692200-53693000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:53692200-53693200	Enhancers	Fetal Lung	lung
13	chr10:53692400-53692600	Enhancers	Left Ventricle	heart
14	chr10:53692600-53693000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:53692600-53694400	Weak transcription	Left Ventricle	heart
16	chr10:53692600-53697600	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:53693000-53695600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:53693200-53697000	Weak transcription	Fetal Lung	lung
19	chr10:53694200-53694400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:53694200-53694600	Enhancers	Right Atrium	heart
21	chr10:53694200-53695400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:53694400-53694800	Enhancers	Left Ventricle	heart
23	chr10:53694400-53696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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