Variant report

Variant	nsv1040438
Chromosome Location	chr11:50297005-50382437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:50381201-50381204	K562	blood:	n/a	n/a
2	CTCF	chr11:50376015-50376061	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr11:50304509-50304621	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr11:50312320-50312366	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr11:50300095-50300112	GM10248	blood:	n/a	n/a
6	CTCF	chr11:50305210-50305247	GM20000	blood:	n/a	n/a
7	CTCF	chr11:50317679-50317740	GM13976	blood:	n/a	n/a
8	CTCF	chr11:50372648-50372696	LNCaP	prostate:	n/a	n/a
9	CTCF	chr11:50316423-50316519	GM10266	blood:	n/a	n/a
10	CTCF	chr11:50305777-50305808	Lung_OC	lung:	n/a	n/a
11	CTCF	chr11:50318115-50318201	GM10266	blood:	n/a	n/a
12	CUX1	chr11:50360922-50360959	GM12878	blood:	n/a	n/a
13	E2F4	chr11:50369680-50369722	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr11:50337674-50337737	GM12878	blood:	n/a	n/a
15	GATA2	chr11:50346724-50347094	HUVEC	blood vessel:	n/a	n/a
16	IRF1	chr11:50332522-50332547	K562	blood:	n/a	n/a
17	KAP1	chr11:50357812-50358185	K562	blood:	n/a	n/a
18	KAP1	chr11:50340952-50341405	HEK293	kidney:	n/a	n/a
19	KAP1	chr11:50339882-50340119	K562	blood:	n/a	n/a
20	MAFF	chr11:50338662-50338991	HepG2	liver:	n/a	chr11:50338843-50338861
21	MAFF	chr11:50337312-50337551	HepG2	liver:	n/a	chr11:50337388-50337406
22	MAFK	chr11:50337282-50337544	HepG2	liver:	n/a	chr11:50337389-50337404
23	MAFK	chr11:50324542-50324720	HepG2	liver:	n/a	n/a
24	MAFK	chr11:50338695-50338992	HepG2	liver:	n/a	chr11:50338844-50338859
25	MAFK	chr11:50338674-50339059	IMR90	lung:	n/a	chr11:50338844-50338859
26	MAFK	chr11:50339474-50339674	HepG2	liver:	n/a	n/a
27	MAFK	chr11:50338667-50339002	HepG2	liver:	n/a	chr11:50338844-50338859
28	MAFK	chr11:50338726-50338979	Hela-S3	cervix:	n/a	chr11:50338844-50338859
29	MAFK	chr11:50337232-50337556	HepG2	liver:	n/a	chr11:50337389-50337404
30	MAFK	chr11:50338783-50338983	K562	blood:	n/a	chr11:50338844-50338859
31	MAX	chr11:50335370-50335401	GM12878	blood:	n/a	n/a
32	MYC	chr11:50371255-50371278	MCF-7	breast:	n/a	n/a
33	MYC	chr11:50371594-50371595	MCF-7	breast:	n/a	n/a
34	MYC	chr11:50371491-50371506	MCF-7	breast:	n/a	n/a
35	MYC	chr11:50371596-50371625	MCF-7	breast:	n/a	n/a
36	MYC	chr11:50371548-50371585	MCF-7	breast:	n/a	n/a
37	MYC	chr11:50318694-50318744	MCF-7	breast:	n/a	chr11:50318728-50318738
38	NFYA	chr11:50352727-50352785	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:50380792-50380828	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:50325093-50325102	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:50329096-50329296	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:50318389-50318558	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:50311031-50311119	A549	lung:	n/a	n/a
44	POLR2A	chr11:50346888-50346921	ProgFib	skin:	n/a	n/a
45	POLR2A	chr11:50372151-50372408	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:50377607-50377654	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:50318209-50318384	ProgFib	skin:	n/a	n/a
48	POLR2A	chr11:50305016-50305154	A549	lung:	n/a	n/a
49	POLR2A	chr11:50316918-50317041	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:50316786-50316897	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:50368251-50368301	T-47D	breast:	n/a
2	chr11:50371681-50371731	LNCaP	prostate:	n/a
3	chr11:50371681-50371731	PrEC	prostate:	n/a
4	chr11:50368251-50368301	SKMC	muscle:	n/a
5	chr11:50368251-50368301	HUVEC	blood vessel:	n/a
6	chr11:50368251-50368301	Hela-S3	cervix:	n/a
7	chr11:50371681-50371731	AG09309	skin:	n/a
8	chr11:50371681-50371731	HAEpiC	amniotic membrane:	n/a
9	chr11:50371681-50371731	NB4	blood:	n/a
10	chr11:50368251-50368301	HRCEpiC	kidney:	n/a
11	chr11:50368251-50368301	HEK293	kidney:	embryo
12	chr11:50371681-50371731	HRCEpiC	kidney:	n/a
13	chr11:50371681-50371731	ovcar-3	ovarian:	n/a
14	chr11:50371681-50371731	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:50368251-50368301	SK-N-SH	brain:	n/a
16	chr11:50368251-50368301	SK-N-SH_RA	brain:	n/a
17	chr11:50371681-50371731	SK-N-SH	brain:	n/a
18	chr11:50371681-50371731	NHDF-neo	bronchial:	n/a
19	chr11:50368251-50368301	HCT-116	colon:	n/a
20	chr11:50368251-50368301	U87	brain:	n/a
21	chr11:50371681-50371731	CMK	blood:	n/a
22	chr11:50371681-50371731	U87	brain:	n/a
23	chr11:50371681-50371731	RPTEC	kidney:	n/a
24	chr11:50368251-50368301	PrEC	prostate:	n/a
25	chr11:50371681-50371731	NT2-D1	testis:	n/a
26	chr11:50371681-50371731	HCPEpiC	choroid plexus:	n/a
27	chr11:50368251-50368301	H1-hESC	embryonic stem cell:	embryo
28	chr11:50371681-50371731	A549	lung:	n/a
29	chr11:50371681-50371731	H1-hESC	embryonic stem cell:	embryo
30	chr11:50371681-50371731	SKMC	muscle:	n/a
31	chr11:50368251-50368301	ECC-1	luminal epithelium:	n/a
32	chr11:50368251-50368301	NHDF-neo	bronchial:	n/a
33	chr11:50371681-50371731	HIPEpiC	eye:	n/a
34	chr11:50371681-50371731	PANC-1	pancreas:	n/a
35	chr11:50368251-50368301	A549	lung:	n/a
36	chr11:50368251-50368301	HCF	heart:	n/a
37	chr11:50371681-50371731	GM12878	blood:	n/a
38	chr11:50368251-50368301	HEEpiC	esophagus:	n/a
39	chr11:50368251-50368301	HIPEpiC	eye:	n/a
40	chr11:50368251-50368301	PFSK-1	brain:	n/a
41	chr11:50371681-50371731	AoSMC	blood vessel:	n/a
42	chr11:50371681-50371731	MCF-7	breast:	n/a
43	chr11:50371681-50371731	HEEpiC	esophagus:	n/a
44	chr11:50368251-50368301	ProgFib	skin:	n/a
45	chr11:50371681-50371731	HCF	heart:	n/a
46	chr11:50368251-50368301	HMEC	breast:	n/a
47	chr11:50368251-50368301	MCF-7	breast:	n/a
48	chr11:50368251-50368301	GM19239	blood:	n/a
49	chr11:50368251-50368301	GM12891	blood:	n/a
50	chr11:50371681-50371731	GM12892	blood:	n/a

No data

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C13-9	chr11:50379313-50379802	NONHSAT021344
2	lnc-OR4C13-7	chr11:50313156-50313246	NONHSAT021340
3	lnc-OR4C13-9	chr11:50379775-50379802	NR_024504
4	lnc-OR4C13-9	chr11:50376439-50376850	NONHSAT021345
5	lnc-OR4C13-7	chr11:50301870-50302020	NONHSAT021343
6	lnc-OR4C13-9	chr11:50378065-50378165	NONHSAT021344
7	lnc-OR4C13-9	chr11:50376439-50376850	NONHSAT021344
8	lnc-OR4C13-9	chr11:50378065-50378165	NR_024504
9	lnc-OR4C13-9	chr11:50368318-50368359	NR_024504
10	lnc-OR4C13-9	chr11:50368318-50368359	NONHSAT021344
11	lnc-OR4C13-9	chr11:50378065-50378165	NONHSAT021345
12	lnc-OR4C13-9	chr11:50379775-50379803	NONHSAT021345
13	lnc-OR4C13-9	chr11:50375274-50375391	NR_024504
14	lnc-OR4C13-7	chr11:50302810-50303035	NONHSAT021343
15	lnc-OR4C13-7	chr11:50301079-50301142	NONHSAT021343
16	lnc-OR4C13-9	chr11:50379313-50379548	NONHSAT021345
17	lnc-OR4C13-7	chr11:50320143-50320239	NONHSAT021340
18	lnc-OR4C13-7	chr11:50302810-50302996	NONHSAT021339
19	lnc-OR4C13-9	chr11:50375235-50375391	NONHSAT021345
20	lnc-OR4C13-9	chr11:50375235-50375391	NONHSAT021344
21	lnc-OR4C13-9	chr11:50379313-50379548	NR_024504
22	lnc-OR4C13-9	chr11:50368739-50368821	NONHSAT021344
23	lnc-OR4C13-9	chr11:50368739-50368821	NR_024504
24	lnc-OR4C13-7	chr11:50320710-50320877	NONHSAT021340
25	lnc-OR4C13-7	chr11:50302810-50303098	NONHSAT021342

No data

Variant related genes	Relation type
ENSG00000254840	TF binding region
ENSG00000214883	TF binding region
ENSG00000254840	CpG island
ENSG00000214883	CpG island

Extended variants
information (count: 2850 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2850 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370271210	chr11:50300101-50300102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564380397	chr11:50300105-50300106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551354110	chr11:50301097-50301098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs564859221	chr11:50301108-50301109	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs530607831	chr11:50301112-50301113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs77874937	chr11:50301130-50301131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs186009371	chr11:50301137-50301138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs12226313	chr11:50301874-50301875	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577887764	chr11:50301884-50301885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs529778030	chr11:50301890-50301891	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs544433335	chr11:50301898-50301899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559867389	chr11:50301899-50301900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191102550	chr11:50301934-50301935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs369566926	chr11:50301949-50301950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs551616688	chr11:50301950-50301951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs543621824	chr11:50301955-50301956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs571598735	chr11:50301984-50301985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs183899566	chr11:50301986-50301987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs550538717	chr11:50302002-50302003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs141375991	chr11:50302006-50302007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs374606024	chr11:50302821-50302822	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs372225043	chr11:50302859-50302860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs2635611	chr11:50302877-50302878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs189351680	chr11:50302878-50302879	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs376657208	chr11:50302908-50302909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs2644999	chr11:50302917-50302918	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548501031	chr11:50302957-50302958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs4111475	chr11:50302990-50302991	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11828181	chr11:50302996-50302997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553479909	chr11:50303082-50303083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs1188214	chr11:50320173-50320174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs201486388	chr11:50320238-50320239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs542017295	chr11:50320814-50320815	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112934717	chr11:50320825-50320826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs34187548	chr11:50324413-50324414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs80141250	chr11:50324414-50324415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184086695	chr11:50324416-50324417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528217875	chr11:50324432-50324433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545091707	chr11:50324456-50324457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550046231	chr11:50324460-50324461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564957737	chr11:50324480-50324481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533593994	chr11:50324516-50324517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs148590608	chr11:50324526-50324527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570292164	chr11:50324561-50324562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529549197	chr11:50324584-50324585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553997389	chr11:50324591-50324592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113193125	chr11:50324597-50324598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs566033841	chr11:50324599-50324600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112207213	chr11:50324603-50324604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76358814	chr11:50324623-50324624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Mortal	21835882	CNVD
Autism	22495309	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Bipolar disorder	19214233	CNVD
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50324400-50325400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:50326400-50345800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:50326600-50328800	ZNF genes & repeats	Liver	Liver
4	chr11:50330000-50331600	ZNF genes & repeats	Liver	Liver
5	chr11:50337400-50343400	ZNF genes & repeats	Liver	Liver
6	chr11:50337600-50341800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr11:50340600-50341400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:50341600-50345800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:50342800-50343200	Active TSS	Right Atrium	heart
10	chr11:50344800-50345600	Active TSS	Fetal Heart	heart
11	chr11:50345400-50345600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:50345800-50346800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:50346600-50347000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr11:50346800-50347000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr11:50346800-50347000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
16	chr11:50346800-50347000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:50346800-50347000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr11:50349200-50357800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr11:50350000-50351800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
20	chr11:50350800-50361200	ZNF genes & repeats	Liver	Liver
21	chr11:50351000-50367200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:50352200-50355600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:50353200-50354600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr11:50354600-50359000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr11:50360600-50361000	Active TSS	Fetal Heart	heart
26	chr11:50360600-50363000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:50360600-50363000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr11:50364800-50365200	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr11:50371000-50371600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr11:50371400-50372600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:50378000-50378600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links