Variant report

Variant	nsv468575
Chromosome Location	chr11:55847945-55937954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:732)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:55856682-55856750	K562	blood:	n/a	n/a
2	BACH1	chr11:55919802-55920154	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:55937213-55937236	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:55917916-55917973	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:55905952-55906317	MCF-7	breast:	n/a	n/a
6	CEBPB	chr11:55906014-55906261	A549	lung:	n/a	n/a
7	CEBPB	chr11:55921214-55921534	HepG2	liver:	n/a	chr11:55921389-55921400
8	CHD1	chr11:55861285-55861372	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:55857262-55857476	Medullo	brain:	n/a	chr11:55857306-55857313
10	CTCF	chr11:55857300-55857450	GM12801	blood:	n/a	chr11:55857306-55857313
11	CTCF	chr11:55890080-55890230	GM12866	blood:	n/a	n/a
12	CTCF	chr11:55857282-55857482	IMR90	lung:	n/a	chr11:55857306-55857313
13	CTCF	chr11:55857301-55857439	GM13977	blood:	n/a	chr11:55857306-55857313
14	CTCF	chr11:55893760-55893910	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr11:55857339-55857418	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr11:55857222-55857410	A549	lung:	n/a	chr11:55857306-55857313
17	CTCF	chr11:55857315-55857414	K562	blood:	n/a	n/a
18	CTCF	chr11:55857304-55857452	LNCaP	prostate:	n/a	chr11:55857306-55857313
19	CTCF	chr11:55857297-55857435	LNCaP	prostate:	n/a	chr11:55857306-55857313
20	CTCF	chr11:55923930-55924003	GM13977	blood:	n/a	n/a
21	CTCF	chr11:55857380-55857530	BE2_C	brain:	n/a	n/a
22	CTCF	chr11:55857215-55857476	K562	blood:	n/a	chr11:55857306-55857313
23	CTCF	chr11:55857278-55857489	H1-hESC	embryonic stem cell:	n/a	chr11:55857306-55857313
24	CTCF	chr11:55857280-55857430	Caco-2	colon:	n/a	chr11:55857306-55857313
25	CTCF	chr11:55857328-55857425	GM20000	blood:	n/a	n/a
26	CTCF	chr11:55871069-55871124	GM13977	blood:	n/a	n/a
27	CTCF	chr11:55857340-55857490	A549	lung:	n/a	n/a
28	CTCF	chr11:55904745-55904803	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:55856583-55857666	A549	lung:	n/a	chr11:55857306-55857313
30	CTCF	chr11:55857275-55857526	A549	lung:	n/a	chr11:55857306-55857313
31	CUX1	chr11:55878375-55878386	GM12878	blood:	n/a	n/a
32	CUX1	chr11:55931480-55931615	GM12878	blood:	n/a	n/a
33	CUX1	chr11:55909690-55909743	GM12878	blood:	n/a	n/a
34	E2F4	chr11:55933779-55933861	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr11:55875913-55876332	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr11:55863942-55864132	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr11:55913517-55913717	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr11:55908544-55908661	MCF10A-Er-Src	breast:	n/a	n/a
39	FOXA1	chr11:55857176-55857491	T-47D	breast:	n/a	n/a
40	GATA3	chr11:55879288-55879577	SH-SY5Y	brain:	n/a	chr11:55879382-55879392 chr11:55879377-55879398 chr11:55879384-55879391 chr11:55879384-55879391 chr11:55879382-55879391 chr11:55879379-55879395 chr11:55879384-55879391
41	GTF2F1	chr11:55852135-55852147	H1-hESC	embryonic stem cell:	n/a	n/a
42	IRF1	chr11:55878415-55878470	K562	blood:	n/a	n/a
43	JUN	chr11:55857434-55857453	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUN	chr11:55923192-55923196	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUN	chr11:55929821-55930021	K562	blood:	n/a	n/a
46	JUN	chr11:55856060-55856243	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr11:55862735-55862930	HepG2	liver:	n/a	n/a
48	MAFF	chr11:55931302-55931656	K562	blood:	n/a	chr11:55931471-55931489 chr11:55931470-55931484
49	MAFF	chr11:55907780-55908077	HepG2	liver:	n/a	chr11:55907930-55907948
50	MAFF	chr11:55919857-55920111	K562	blood:	n/a	chr11:55920019-55920037

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55889658-55889708	HRCEpiC	kidney:	n/a
2	chr11:55889808-55889858	SAEC	small airway:	n/a
3	chr11:55890274-55890324	GM12878	blood:	n/a
4	chr11:55889658-55889708	BJ	skin:	n/a
5	chr11:55890274-55890324	Hela-S3	cervix:	n/a
6	chr11:55889808-55889858	SKMC	muscle:	n/a
7	chr11:55872467-55872517	BJ	skin:	n/a
8	chr11:55872995-55873045	Hepatocyte	liver:	n/a
9	chr11:55889658-55889708	GM12892	blood:	n/a
10	chr11:55889797-55889847	ECC-1	luminal epithelium:	n/a
11	chr11:55905246-55905296	U87	brain:	n/a
12	chr11:55872882-55872932	HCF	heart:	n/a
13	chr11:55905246-55905296	ovcar-3	ovarian:	n/a
14	chr11:55889658-55889708	PrEC	prostate:	n/a
15	chr11:55889797-55889847	H1-hESC	embryonic stem cell:	embryo
16	chr11:55872467-55872517	SK-N-MC	brain:	n/a
17	chr11:55904782-55904832	Hela-S3	cervix:	n/a
18	chr11:55889808-55889858	NHBE	bronchial:	n/a
19	chr11:55927697-55927747	HL-60	blood:	n/a
20	chr11:55872995-55873045	HAEpiC	amniotic membrane:	n/a
21	chr11:55889658-55889708	HUVEC	blood vessel:	n/a
22	chr11:55889808-55889858	MCF10A-Er-Src	breast:	n/a
23	chr11:55889808-55889858	HCT-116	colon:	n/a
24	chr11:55904782-55904832	HEEpiC	esophagus:	n/a
25	chr11:55872467-55872517	PrEC	prostate:	n/a
26	chr11:55889658-55889708	Caco-2	colon:	n/a
27	chr11:55889658-55889708	AG10803	skin:	n/a
28	chr11:55872995-55873045	A549	lung:	n/a
29	chr11:55927697-55927747	AG09319	gingival:	n/a
30	chr11:55905246-55905296	SK-N-SH	brain:	n/a
31	chr11:55889658-55889708	T-47D	breast:	n/a
32	chr11:55872995-55873045	PrEC	prostate:	n/a
33	chr11:55889658-55889708	ECC-1	luminal epithelium:	n/a
34	chr11:55889797-55889847	AG09309	skin:	n/a
35	chr11:55905246-55905296	RPTEC	kidney:	n/a
36	chr11:55872467-55872517	SKMC	muscle:	n/a
37	chr11:55889658-55889708	RPTEC	kidney:	n/a
38	chr11:55872995-55873045	GM06990	blood:	n/a
39	chr11:55927697-55927747	ECC-1	luminal epithelium:	n/a
40	chr11:55872467-55872517	HCF	heart:	n/a
41	chr11:55872882-55872932	SK-N-SH_RA	brain:	n/a
42	chr11:55872478-55872528	NHDF-neo	bronchial:	n/a
43	chr11:55872467-55872517	HUVEC	blood vessel:	n/a
44	chr11:55927697-55927747	HEK293	kidney:	embryo
45	chr11:55872478-55872528	AG09319	gingival:	n/a
46	chr11:55889797-55889847	AG04450	lung:	fetal
47	chr11:55889658-55889708	A549	lung:	n/a
48	chr11:55872995-55873045	HCT-116	colon:	n/a
49	chr11:55872995-55873045	NHBE	bronchial:	n/a
50	chr11:55889808-55889858	AG04449	skin:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:55861584..55863423-chr11:55907412..55909639,2	K562	blood:
2	chr11:55861584..55863423-chr11:55907412..55909639,2	K562	blood:
3	chr11:55921059..55923391-chr11:55935211..55936757,2	K562	blood:
4	chr11:55921059..55923391-chr11:55935211..55936757,2	K562	blood:

No data

Variant related genes	Relation type
OR5BN2P	TF binding region
OR8I4P	TF binding region
OR5J7P	TF binding region
OR8H2	TF binding region
OR8I2	TF binding region
OR8J3	TF binding region
OR8H3	TF binding region
OR8K5	TF binding region
OR8K4P	TF binding region
OR5BE1P	TF binding region
OR5BN1P	TF binding region
OR5BN2P	CpG island
OR8I4P	CpG island
OR5J7P	CpG island
OR8H2	CpG island
OR8I2	CpG island
OR8J3	CpG island
OR8H3	CpG island
OR8K5	CpG island
OR8K4P	CpG island
OR5BE1P	CpG island
OR5BN1P	CpG island

Extended variants
information (count: 330 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188843481	chr11:55849881-55849882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141796936	chr11:55849936-55849937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7939283	chr11:55849944-55849945	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554897164	chr11:55850168-55850169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565570586	chr11:55850223-55850224	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573411109	chr11:55850248-55850249	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537536876	chr11:55850254-55850255	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556766598	chr11:55850259-55850260	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs116752516	chr11:55850260-55850261	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545720413	chr11:55850271-55850272	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530570752	chr11:55850291-55850292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181640420	chr11:55850359-55850360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544208211	chr11:55850410-55850411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61887074	chr11:55850448-55850449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543049879	chr11:55850462-55850463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561254719	chr11:55850476-55850477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531878116	chr11:55850513-55850514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7118155	chr11:55850531-55850532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs148490554	chr11:55850554-55850555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61734131	chr11:55850561-55850562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551133542	chr11:55850585-55850586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566433437	chr11:55850596-55850597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116889847	chr11:55850641-55850642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376696171	chr11:55850653-55850654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185445338	chr11:55850692-55850693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546625068	chr11:55850709-55850710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188740939	chr11:55850724-55850725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112922954	chr11:55850775-55850776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555972054	chr11:55850805-55850806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370356594	chr11:55850811-55850812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552985539	chr11:55850853-55850854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572973247	chr11:55850857-55850858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566555798	chr11:55850931-55850932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577635338	chr11:55850940-55850941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1384090	chr11:55850947-55850948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181391255	chr11:55850962-55850963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572813782	chr11:55850966-55850967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376644171	chr11:55850988-55850989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561293786	chr11:55850992-55850993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576343845	chr11:55850993-55850994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543764249	chr11:55850994-55850995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565255627	chr11:55851011-55851012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17530318	chr11:55851022-55851023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552234456	chr11:55851042-55851043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551172255	chr11:55851054-55851055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375910419	chr11:55851058-55851059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568788673	chr11:55851115-55851116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17530360	chr11:55851124-55851125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185799130	chr11:55851149-55851150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112842585	chr11:55851150-55851151	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55850200-55851400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:55860800-55861200	Active TSS	Fetal Heart	heart
3	chr11:55910400-55910800	Active TSS	Fetal Heart	heart
4	chr11:55919400-55919800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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