Variant report

Variant	nsv975772
Chromosome Location	chr10:57503482-57506441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:57505473-57505500	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-5	chr10:57506311-57506668	NONHSAT013465

Variant related genes	Relation type
ENSG00000270541	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571378399	chr10:57503488-57503489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537124957	chr10:57503555-57503556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77854641	chr10:57503563-57503564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2392946	chr10:57503575-57503576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183585074	chr10:57503578-57503579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547616755	chr10:57503689-57503690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573110174	chr10:57503702-57503703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80064077	chr10:57503716-57503717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558765196	chr10:57503722-57503723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114210680	chr10:57503726-57503727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369241294	chr10:57503754-57503755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10740632	chr10:57503813-57503814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116604933	chr10:57503824-57503825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114063941	chr10:57503856-57503857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10740633	chr10:57503868-57503869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559761521	chr10:57503941-57503942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16907802	chr10:57503942-57503943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568748723	chr10:57503969-57503970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551966267	chr10:57503989-57503990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573468567	chr10:57503995-57503996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370282648	chr10:57503996-57503997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551683890	chr10:57504021-57504022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565120185	chr10:57504068-57504069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145352916	chr10:57504072-57504073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112862788	chr10:57504073-57504074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35437163	chr10:57504086-57504087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397691838	chr10:57504093-57504094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398114367	chr10:57504094-57504095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374616167	chr10:57504119-57504120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72790922	chr10:57504138-57504139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546995543	chr10:57504179-57504180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566784185	chr10:57504204-57504205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74493565	chr10:57504284-57504285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10509040	chr10:57504288-57504289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs148688417	chr10:57504295-57504296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34331290	chr10:57504334-57504335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142239938	chr10:57504346-57504347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146739515	chr10:57504352-57504353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554661831	chr10:57504391-57504392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114357672	chr10:57504417-57504418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189770726	chr10:57504426-57504427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192826389	chr10:57504449-57504450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185219795	chr10:57504452-57504453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545285686	chr10:57504489-57504490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75802450	chr10:57504556-57504557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190112859	chr10:57504559-57504560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151190655	chr10:57504576-57504577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375877059	chr10:57504580-57504581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10509041	chr10:57504582-57504583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs530191849	chr10:57504585-57504586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57500800-57506800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr10:57501000-57506200	Weak transcription	Liver	Liver
3	chr10:57506200-57507400	Enhancers	Liver	Liver
4	chr10:57506400-57507600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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