Variant report

Variant	nsv983010
Chromosome Location	chr11:48600495-48632506
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	CEBPB	chr11:48628746-48628791	HepG2	liver:	n/a	chr11:48628766-48628779 chr11:48628767-48628778 chr11:48628766-48628777
2	CTCF	chr11:48631997-48632093	GM13976	blood:	n/a	n/a
3	E2F4	chr11:48614004-48614186	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr11:48608635-48608825	IMR90	lung:	n/a	chr11:48608719-48608730
5	MAFK	chr11:48608572-48608830	HepG2	liver:	n/a	chr11:48608719-48608730
6	MAZ	chr11:48611732-48611913	HepG2	liver:	n/a	n/a
7	MYC	chr11:48632098-48632224	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:48631870-48631983	Gliobla	brain:	n/a	n/a
9	POLR2A	chr11:48616256-48616323	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:48606369-48606520	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:48625460-48625504	Gliobla	brain:	n/a	n/a
12	POLR2A	chr11:48624899-48624920	A549	lung:	n/a	n/a
13	STAT3	chr11:48612179-48612184	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr11:48622098-48622260	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
OR4A41P	TF binding region
OR4A45P	TF binding region
OR4A42P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74403804	chr11:48606371-48606372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540526809	chr11:48606418-48606419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs560054538	chr11:48606436-48606437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs116329055	chr11:48606495-48606496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs545026625	chr11:48606510-48606511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565022272	chr11:48606520-48606521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs145951279	chr11:48608583-48608584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549000610	chr11:48608659-48608660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548275363	chr11:48608661-48608662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566006386	chr11:48608670-48608671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144079928	chr11:48608685-48608686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs186636218	chr11:48608696-48608697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564654084	chr11:48608715-48608716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs190298956	chr11:48608717-48608718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368474265	chr11:48608744-48608745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541653669	chr11:48608762-48608763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6485889	chr11:48608785-48608786	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576545256	chr11:48608817-48608818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370496922	chr11:48628770-48628771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs577216921	chr11:48628783-48628784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	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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