Variant report

Variant	nsv897480
Chromosome Location	chr11:48978778-49042866
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	BATF	chr11:48985116-48985352	GM12878	blood:	n/a	n/a
2	BATF	chr11:48985042-48985405	GM12878	blood:	n/a	n/a
3	BCL3	chr11:48990838-48991105	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:49026617-49026956	Hela-S3	cervix:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
5	CEBPB	chr11:48994051-48994082	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:49026601-49026811	HepG2	liver:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
7	CEBPB	chr11:49026623-49026812	K562	blood:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
8	CTCF	chr11:48982255-48982371	GM10266	blood:	n/a	n/a
9	CTCF	chr11:49007543-49007618	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr11:49027432-49027531	Lung_OC	lung:	n/a	n/a
11	CTCF	chr11:49004817-49004881	LNCaP	prostate:	n/a	n/a
12	CTCF	chr11:49022831-49022955	GM20000	blood:	n/a	n/a
13	CTCF	chr11:48983139-48983172	GM13976	blood:	n/a	n/a
14	CTCF	chr11:49023336-49023420	GM13976	blood:	n/a	n/a
15	CTCF	chr11:49027702-49027760	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr11:48982340-48982500	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr11:49005234-49005296	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr11:48995522-48995576	GM20000	blood:	n/a	n/a
19	CTCF	chr11:49002359-49002389	Lung_OC	lung:	n/a	n/a
20	CTCF	chr11:49015556-49015587	GM10248	blood:	n/a	n/a
21	CTCF	chr11:49001907-49001963	LNCaP	prostate:	n/a	n/a
22	CTCF	chr11:49021780-49021828	Pancreas_OC	pancreas:	n/a	n/a
23	E2F4	chr11:48989171-48989221	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr11:48984953-48985329	GM12878	blood:	n/a	chr11:48985117-48985126 chr11:48985117-48985126 chr11:48985115-48985128 chr11:48985117-48985127
25	EBF1	chr11:48984917-48985324	GM12878	blood:	n/a	chr11:48985117-48985126 chr11:48985117-48985126 chr11:48985115-48985128 chr11:48985117-48985127
26	FOS	chr11:49013488-49013679	MCF10A-Er-Src	breast:	n/a	chr11:49013634-49013643 chr11:49013634-49013644 chr11:49013635-49013644 chr11:49013638-49013646 chr11:49013635-49013642
27	FOS	chr11:49013531-49013795	MCF10A-Er-Src	breast:	n/a	chr11:49013634-49013643 chr11:49013634-49013644 chr11:49013635-49013644 chr11:49013638-49013646 chr11:49013635-49013642
28	IRF1	chr11:49025143-49025232	K562	blood:	n/a	n/a
29	JUND	chr11:48994064-48994085	HepG2	liver:	n/a	n/a
30	MAFF	chr11:49001958-49002261	HepG2	liver:	n/a	chr11:49002080-49002098 chr11:49002086-49002100
31	MAFF	chr11:49002054-49002146	K562	blood:	n/a	chr11:49002080-49002098 chr11:49002086-49002100
32	MAFK	chr11:49031252-49031431	HepG2	liver:	n/a	chr11:49031293-49031309 chr11:49031297-49031308 chr11:49031298-49031309 chr11:49031293-49031308 chr11:49031298-49031309 chr11:49031297-49031308 chr11:49031296-49031310
33	MAFK	chr11:49001927-49002253	IMR90	lung:	n/a	chr11:49002089-49002099 chr11:49002082-49002097 chr11:49002085-49002101 chr11:49002086-49002100 chr11:49002087-49002096 chr11:49002082-49002098 chr11:49002083-49002103
34	MAFK	chr11:49041650-49041849	HepG2	liver:	n/a	n/a
35	MAFK	chr11:49041643-49041942	HepG2	liver:	n/a	n/a
36	MAFK	chr11:49025846-49025987	HepG2	liver:	n/a	n/a
37	MAFK	chr11:49001926-49002239	HepG2	liver:	n/a	chr11:49002089-49002099 chr11:49002082-49002097 chr11:49002085-49002101 chr11:49002086-49002100 chr11:49002087-49002096 chr11:49002082-49002098 chr11:49002083-49002103
38	MAFK	chr11:49031203-49031424	HepG2	liver:	n/a	chr11:49031293-49031309 chr11:49031297-49031308 chr11:49031298-49031309 chr11:49031293-49031308 chr11:49031298-49031309 chr11:49031297-49031308 chr11:49031296-49031310
39	MAFK	chr11:48980470-48980670	HepG2	liver:	n/a	chr11:48980535-48980555 chr11:48980537-48980553 chr11:48980544-48980555
40	MAFK	chr11:49001912-49002274	HepG2	liver:	n/a	chr11:49002089-49002099 chr11:49002082-49002097 chr11:49002085-49002101 chr11:49002086-49002100 chr11:49002087-49002096 chr11:49002082-49002098 chr11:49002083-49002103
41	MAFK	chr11:49036278-49036462	HepG2	liver:	n/a	chr11:49036349-49036360 chr11:49036349-49036364 chr11:49036349-49036365 chr11:49036348-49036362 chr11:49036349-49036360
42	MYC	chr11:49041386-49041477	HepG2	liver:	n/a	n/a
43	PAX5	chr11:48985116-48985376	GM12878	blood:	n/a	n/a
44	PBX3	chr11:48990768-48991121	GM12878	blood:	n/a	n/a
45	PBX3	chr11:48985123-48985332	GM12878	blood:	n/a	n/a
46	PBX3	chr11:48991807-48991953	GM12878	blood:	n/a	n/a
47	PBX3	chr11:48991157-48991690	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:48996933-48997051	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:48998277-48998308	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:49025418-49025511	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48994113-48994163	MCF10A-Er-Src	breast:	n/a
2	chr11:48990330-48990380	PANC-1	pancreas:	n/a
3	chr11:48989769-48989819	HCT-116	colon:	n/a
4	chr11:48990484-48990534	LNCaP	prostate:	n/a
5	chr11:48989769-48989819	HMEC	breast:	n/a
6	chr11:49003361-49003411	K562	blood:	n/a
7	chr11:49017551-49017601	GM12891	blood:	n/a
8	chr11:49016314-49016364	BJ	skin:	n/a
9	chr11:49003361-49003411	MCF10A-Er-Src	breast:	n/a
10	chr11:48991619-48991669	HAEpiC	amniotic membrane:	n/a
11	chr11:49017551-49017601	SKMC	muscle:	n/a
12	chr11:48989769-48989819	MCF10A-Er-Src	breast:	n/a
13	chr11:48990484-48990534	NT2-D1	testis:	n/a
14	chr11:48989769-48989819	NT2-D1	testis:	n/a
15	chr11:49016314-49016364	SAEC	small airway:	n/a
16	chr11:49003361-49003411	GM06990	blood:	n/a
17	chr11:49003527-49003577	NH-A	brain:	n/a
18	chr11:48990330-48990380	NHBE	bronchial:	n/a
19	chr11:49016314-49016364	SK-N-SH	brain:	n/a
20	chr11:48987265-48987315	HCPEpiC	choroid plexus:	n/a
21	chr11:49003527-49003577	CMK	blood:	n/a
22	chr11:48994113-48994163	AG04449	skin:	fetal
23	chr11:49003527-49003577	HEEpiC	esophagus:	n/a
24	chr11:49003527-49003577	HCPEpiC	choroid plexus:	n/a
25	chr11:48990211-48990261	HL-60	blood:	n/a
26	chr11:48991619-48991669	HRPEpiC	eye:	n/a
27	chr11:48990484-48990534	AG09319	gingival:	n/a
28	chr11:49016314-49016364	HCF	heart:	n/a
29	chr11:48989769-48989819	NHBE	bronchial:	n/a
30	chr11:48990211-48990261	PrEC	prostate:	n/a
31	chr11:49016314-49016364	PANC-1	pancreas:	n/a
32	chr11:48990211-48990261	HAEpiC	amniotic membrane:	n/a
33	chr11:48989769-48989819	HIPEpiC	eye:	n/a
34	chr11:48987265-48987315	CMK	blood:	n/a
35	chr11:48989769-48989819	HRCEpiC	kidney:	n/a
36	chr11:49003527-49003577	AG09319	gingival:	n/a
37	chr11:48991619-48991669	AG04449	skin:	fetal
38	chr11:48994113-48994163	HRE	kidney:	n/a
39	chr11:48990211-48990261	T-47D	breast:	n/a
40	chr11:48990484-48990534	NHDF-neo	bronchial:	n/a
41	chr11:48987265-48987315	Jurkat	blood:	n/a
42	chr11:48990484-48990534	HCT-116	colon:	n/a
43	chr11:48990330-48990380	Hepatocyte	liver:	n/a
44	chr11:48994113-48994163	HMEC	breast:	n/a
45	chr11:49003361-49003411	GM12878	blood:	n/a
46	chr11:48989769-48989819	RPTEC	kidney:	n/a
47	chr11:48991619-48991669	A549	lung:	n/a
48	chr11:48990484-48990534	HRCEpiC	kidney:	n/a
49	chr11:48990484-48990534	GM12891	blood:	n/a
50	chr11:49017551-49017601	HCT-116	colon:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-2	chr11:48981480-48981636	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48981775-48981855	NONHSAT021303
4	lnc-AC084851.1-2	chr11:48983254-48983362	NONHSAT021303

Variant related genes	Relation type
ENSG00000205044	TF binding region
TRIM53CP	TF binding region
ENSG00000254517	TF binding region
TRIM51GP	TF binding region
ENSG00000205044	CpG island
TRIM53CP	CpG island
ENSG00000254517	CpG island
TRIM51GP	CpG island

Extended variants
information (count: 121 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149902630	chr11:48980477-48980478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111704609	chr11:48980514-48980515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377058023	chr11:48980563-48980564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4145667	chr11:48980568-48980569	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575591609	chr11:48980579-48980580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs181282554	chr11:48980622-48980623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561420227	chr11:48980635-48980636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs530102587	chr11:48980640-48980641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186809855	chr11:48980651-48980652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560270680	chr11:48980654-48980655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201496604	chr11:48981492-48981493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs74392595	chr11:48981546-48981547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs370451765	chr11:48981551-48981552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs534052928	chr11:48981555-48981556	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs7101824	chr11:48981559-48981560	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6485939	chr11:48981569-48981570	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546399815	chr11:48981577-48981578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs181980933	chr11:48981634-48981635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs150423915	chr11:48981782-48981783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547551435	chr11:48981785-48981786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs564187091	chr11:48981792-48981793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs138196608	chr11:48981795-48981796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs116951994	chr11:48981804-48981805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs569739290	chr11:48981817-48981818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs535785417	chr11:48981841-48981842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs183599583	chr11:48981848-48981849	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs189203630	chr11:48981851-48981852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs4929866	chr11:48982487-48982488	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs60971573	chr11:48982504-48982505	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs59724892	chr11:48982508-48982509	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188150533	chr11:48982509-48982510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs200319816	chr11:48982511-48982512	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs201315834	chr11:48982515-48982516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs199648054	chr11:48982516-48982517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs55798740	chr11:48982525-48982526	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551384241	chr11:48982548-48982549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs56152132	chr11:48983257-48983258	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs182873086	chr11:48983260-48983261	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs187598404	chr11:48983272-48983273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs117263299	chr11:48983275-48983276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs558483738	chr11:48983282-48983283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs552634848	chr11:48983283-48983284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs192412435	chr11:48983292-48983293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs544898941	chr11:48983295-48983296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs565046293	chr11:48983298-48983299	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575460588	chr11:48983301-48983302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs575290525	chr11:48983303-48983304	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs544488686	chr11:48983305-48983306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs370245402	chr11:48983313-48983314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs576649544	chr11:49003361-49003362	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	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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