Variant report

Variant	nsv946546
Chromosome Location	chr1:191113940-191116555
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	CTCF	chr1:191115103-191115105	K562	blood:	n/a	n/a
2	MYC	chr1:191114227-191114236	MCF-7	breast:	n/a	n/a
3	MYC	chr1:191114104-191114105	MCF-7	breast:	n/a	n/a
4	MYC	chr1:191114025-191114111	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:191113995-191114187	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:191115823-191115887	Gliobla	brain:	n/a	n/a
7	YY1	chr1:191115888-191116032	K562	blood:	n/a	n/a
8	ZNF274	chr1:191114054-191114366	NT2-D1	testis:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-9	chr1:191115155-191116091	NONHSAT008514

Variant related genes	Relation type
ENSG00000261642	TF binding region
HNRNPA1P46	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 88 )

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	rs192229103	chr1:191115156-191115157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs56180053	chr1:191115178-191115179	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111581521	chr1:191115192-191115193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570171169	chr1:191115194-191115195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536082648	chr1:191115247-191115248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs186648177	chr1:191115279-191115280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs566412318	chr1:191115286-191115287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs367764017	chr1:191115331-191115332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs145040198	chr1:191115355-191115356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs74129887	chr1:191115362-191115363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570861333	chr1:191115400-191115401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs536769503	chr1:191115407-191115408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs112313404	chr1:191115428-191115429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs573636973	chr1:191115504-191115505	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs542834240	chr1:191115564-191115565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs375842807	chr1:191115574-191115575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552888617	chr1:191115575-191115576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs10753974	chr1:191115638-191115639	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545277651	chr1:191115639-191115640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs564494959	chr1:191115642-191115643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs191855592	chr1:191115677-191115678	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs138878921	chr1:191115689-191115690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs569376741	chr1:191115696-191115697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563835271	chr1:191115767-191115768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs56145453	chr1:191115800-191115801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs529367530	chr1:191115803-191115804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs141393909	chr1:191115813-191115814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs558345850	chr1:191115876-191115877	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs566104005	chr1:191115893-191115894	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs528760312	chr1:191115908-191115909	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs551627158	chr1:191115964-191115965	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs377249329	chr1:191116005-191116006	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs368662629	chr1:191116006-191116007	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs536681570	chr1:191116023-191116024	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs556659525	chr1:191116067-191116068	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs370661692	chr1:191116072-191116073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	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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