Variant report

Variant	nsv947626
Chromosome Location	chr10:57054593-57073626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:57063877..57064377-chr19:2475827..2476338,2	HCT-116	colon:
2	chr10:57070275..57072956-chr10:57073924..57076698,2	K562	blood:

Variant related genes	Relation type
ENSG00000099860	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs80308800	chr10:57055803-57055804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76427320	chr10:57055872-57055873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76984045	chr10:57055873-57055874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78462248	chr10:57055874-57055875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375885810	chr10:57055892-57055893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558472795	chr10:57055904-57055905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138165487	chr10:57055922-57055923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77595067	chr10:57055936-57055937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557045802	chr10:57056012-57056013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141790190	chr10:57056032-57056033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150578944	chr10:57056037-57056038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559400269	chr10:57056042-57056043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572741827	chr10:57056166-57056167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544834994	chr10:57056177-57056178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139471962	chr10:57056218-57056219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530687034	chr10:57056266-57056267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149659721	chr10:57056292-57056293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560753519	chr10:57056293-57056294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369914509	chr10:57056308-57056309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546766516	chr10:57056319-57056320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184353530	chr10:57056376-57056377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528690438	chr10:57063904-57063905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551904162	chr10:57063906-57063907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76067988	chr10:57063956-57063957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531076308	chr10:57063972-57063973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550849072	chr10:57063995-57063996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567367897	chr10:57064030-57064031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190888289	chr10:57064073-57064074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74486189	chr10:57064099-57064100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566910473	chr10:57064140-57064141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538474809	chr10:57064224-57064225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558682323	chr10:57064242-57064243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180800615	chr10:57064249-57064250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186663128	chr10:57064322-57064323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201526302	chr10:57064366-57064367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543042308	chr10:57065001-57065002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116979946	chr10:57065015-57065016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561335262	chr10:57065051-57065052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528974202	chr10:57065084-57065085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552680750	chr10:57065119-57065120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569121228	chr10:57065139-57065140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538030760	chr10:57065166-57065167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7897484	chr10:57065195-57065196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574738218	chr10:57065250-57065251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563689990	chr10:57065267-57065268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143967034	chr10:57065370-57065371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574109194	chr10:57065392-57065393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533577543	chr10:57065396-57065397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115378079	chr10:57065410-57065411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148633394	chr10:57065424-57065425	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57055800-57056400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:57065000-57065600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:57068000-57068600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:57069800-57070800	Weak transcription	Fetal Brain Male	brain
5	chr10:57070800-57072600	Enhancers	Fetal Brain Male	brain
6	chr10:57071000-57072400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:57071400-57072400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr10:57072000-57072600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links