Variant report

Variant	nsv971910
Chromosome Location	chr10:52653523-52661089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs534604866	chr10:52653545-52653546	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372765749	chr10:52653566-52653567	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370807351	chr10:52653570-52653571	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568544984	chr10:52653606-52653607	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144814661	chr10:52653607-52653608	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548128246	chr10:52653611-52653612	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537722329	chr10:52653622-52653623	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548471413	chr10:52653623-52653624	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147984333	chr10:52653645-52653646	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372434149	chr10:52653656-52653657	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80025789	chr10:52653668-52653669	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12244221	chr10:52653674-52653675	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112218644	chr10:52653686-52653687	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10637821	chr10:52653687-52653688	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183420671	chr10:52653742-52653743	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533983163	chr10:52653766-52653767	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373195712	chr10:52653792-52653793	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568239887	chr10:52653906-52653907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187808161	chr10:52654058-52654059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79813521	chr10:52654100-52654101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539973327	chr10:52654109-52654110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114363644	chr10:52654145-52654146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576526686	chr10:52654177-52654178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536885644	chr10:52654188-52654189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556998226	chr10:52654192-52654193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115500310	chr10:52654199-52654200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138506266	chr10:52654200-52654201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372542252	chr10:52654202-52654203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572689338	chr10:52654215-52654216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28544109	chr10:52654220-52654221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7476451	chr10:52654260-52654261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200517265	chr10:52654272-52654273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111354858	chr10:52654284-52654285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371126377	chr10:52654294-52654295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541609187	chr10:52654297-52654298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564550738	chr10:52654319-52654320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532058891	chr10:52654362-52654363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551877872	chr10:52654366-52654367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375515228	chr10:52654367-52654368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149630188	chr10:52654377-52654378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563484846	chr10:52654386-52654387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531217805	chr10:52654427-52654428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375895519	chr10:52654462-52654463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72156423	chr10:52654470-52654471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386371337	chr10:52654478-52654479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60362264	chr10:52654479-52654480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376673644	chr10:52654495-52654496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547918793	chr10:52654509-52654510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534237950	chr10:52654526-52654527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568341539	chr10:52654635-52654636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Cancer	21183584	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
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52646800-52654800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:52650200-52654200	Enhancers	Liver	Liver
3	chr10:52653000-52653600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr10:52653400-52653600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
5	chr10:52653600-52653800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr10:52653600-52656400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:52654800-52655200	Enhancers	Fetal Intestine Small	intestine
8	chr10:52656400-52656600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr10:52656600-52657000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:52657000-52658200	Enhancers	Pancreatic Islets	Pancreatic Islet

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