Variant report

Variant	nsv948324
Chromosome Location	chr10:42973594-42979822
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	chr10:42969759..42972522-chr10:42973543..42976083,2	K562	blood:
2	chr10:42969759..42973137-chr10:42973543..42977083,4	K562	blood:

Variant related genes	Relation type
ENSG00000185904	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556735993	chr10:42973614-42973615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75989521	chr10:42973694-42973695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75280710	chr10:42973696-42973697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79912765	chr10:42973753-42973754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553357690	chr10:42973809-42973810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191702347	chr10:42973810-42973811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183319748	chr10:42973820-42973821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140460982	chr10:42973821-42973822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575561382	chr10:42973824-42973825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377350773	chr10:42973881-42973882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7911186	chr10:42973936-42973937	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539330793	chr10:42973964-42973965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11288222	chr10:42974002-42974003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564239732	chr10:42974040-42974041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374289518	chr10:42974043-42974044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546356600	chr10:42974073-42974074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138242083	chr10:42974129-42974130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374281597	chr10:42974136-42974137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549421015	chr10:42974164-42974165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142852210	chr10:42974182-42974183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114633022	chr10:42974244-42974245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145111725	chr10:42974283-42974284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531073898	chr10:42974302-42974303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368347258	chr10:42974337-42974338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550781872	chr10:42974386-42974387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570687360	chr10:42974418-42974419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191426554	chr10:42974428-42974429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7893674	chr10:42974443-42974444	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182316017	chr10:42974476-42974477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554280074	chr10:42974488-42974489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574925743	chr10:42974489-42974490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138928170	chr10:42974507-42974508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs142259777	chr10:42974528-42974529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544491254	chr10:42974529-42974530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558012959	chr10:42974533-42974534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187829065	chr10:42974572-42974573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73260190	chr10:42974573-42974574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574174753	chr10:42974640-42974641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572670031	chr10:42974642-42974643	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144824019	chr10:42974700-42974701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192951932	chr10:42974737-42974738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531134006	chr10:42974752-42974753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550845026	chr10:42974755-42974756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372698006	chr10:42974760-42974761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557906770	chr10:42974791-42974792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184881192	chr10:42974797-42974798	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533358443	chr10:42974800-42974801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547123534	chr10:42974803-42974804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566859561	chr10:42974860-42974861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190167794	chr10:42974862-42974863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	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
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Obesity	20622171	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42972000-42975200	Weak transcription	Aorta	Aorta
2	chr10:42972000-42991200	Weak transcription	Spleen	Spleen
3	chr10:42972200-42982200	Weak transcription	Ovary	ovary
4	chr10:42972200-42988800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:42972600-42975000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:42972800-42974200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:42972800-42983400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:42973000-42974000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:42973000-42989400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:42973000-42990200	Weak transcription	HMEC	breast
11	chr10:42974000-42974800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:42974200-42977400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:42974800-42983400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:42975000-42975400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:42975200-42975400	ZNF genes & repeats	Aorta	Aorta
16	chr10:42975400-42983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:42977400-42982200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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