Variant report

Variant	nsv981479
Chromosome Location	chr7:56566195-56571871
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	BRCA1	chr7:56566718-56566802	GM12878	blood:	n/a	n/a
2	CTCF	chr7:56570560-56570710	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr7:56570659-56570757	Kidney_OC	kidney:	n/a	n/a
4	MAFK	chr7:56570818-56571058	HepG2	liver:	n/a	n/a
5	MXI1	chr7:56567785-56567820	GM12878	blood:	n/a	n/a
6	MYC	chr7:56570713-56570855	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP4-725G10.1.1-9	chr7:56569977-56570737	NONHSAT120762

Variant related genes	Relation type
NMD3P2	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185707596	chr7:56570033-56570034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs555503778	chr7:56570063-56570064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs546328982	chr7:56570098-56570099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs553023950	chr7:56570120-56570121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs564721157	chr7:56570191-56570192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs189400922	chr7:56570223-56570224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs550569970	chr7:56570227-56570228	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs569152027	chr7:56570266-56570267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs537013364	chr7:56570269-56570270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549364101	chr7:56570352-56570353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567711798	chr7:56570382-56570383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs372932954	chr7:56570388-56570389	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575827083	chr7:56570421-56570422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs577763221	chr7:56570433-56570434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs180966420	chr7:56570434-56570435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs183873441	chr7:56570518-56570519	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs374563623	chr7:56570668-56570669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs145509076	chr7:56570707-56570708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs557329852	chr7:56570719-56570720	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575896668	chr7:56570745-56570746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371896417	chr7:56570746-56570747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs3071757	chr7:56570764-56570765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542996331	chr7:56570783-56570784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs188150022	chr7:56570831-56570832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138224874	chr7:56570877-56570878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1387067	chr7:56570886-56570887	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564657892	chr7:56570916-56570917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532172015	chr7:56570923-56570924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576752772	chr7:56570962-56570963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201652825	chr7:56570963-56570964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371720793	chr7:56570971-56570972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs141835956	chr7:56571021-56571022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111632222	chr7:56571022-56571023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs59495325	chr7:56571035-56571036	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548546570	chr7:56571038-56571039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567650001	chr7:56571048-56571049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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