Variant report

Variant	nsv1052597
Chromosome Location	chr11:55431052-55608261
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	CCNT2	chr11:55598241-55598440	K562	blood:	n/a	n/a
2	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
3	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
4	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
5	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
6	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
7	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
8	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
9	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
10	CEBPB	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
11	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
13	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
14	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
15	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
16	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
17	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
18	CTCF	chr11:55494240-55494390	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr11:55474580-55474730	HepG2	liver:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
20	CTCF	chr11:55474600-55474750	GM12873	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
21	CTCF	chr11:55482620-55483302	A549	lung:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
22	CTCF	chr11:55482520-55482670	GM12866	blood:	n/a	n/a
23	CTCF	chr11:55474640-55474790	HepG2	liver:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
24	CTCF	chr11:55482920-55483070	HFF-Myc	foreskin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
25	CTCF	chr11:55474541-55474783	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
26	CTCF	chr11:55494260-55494410	HCFaa	heart:	n/a	n/a
27	CTCF	chr11:55482840-55482990	AG09309	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
28	CTCF	chr11:55482880-55483030	K562	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
29	CTCF	chr11:55474600-55474750	GM12801	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
30	CTCF	chr11:55474620-55474770	GM12870	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
31	CTCF	chr11:55602016-55602065	GM13977	blood:	n/a	n/a
32	CTCF	chr11:55482540-55482690	GM12872	blood:	n/a	n/a
33	CTCF	chr11:55474720-55474870	BE2_C	brain:	n/a	n/a
34	CTCF	chr11:55482880-55483030	GM12865	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
35	CTCF	chr11:55474680-55474830	AG04450	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
36	CTCF	chr11:55482840-55482990	HPAF	blood vessel:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
37	CTCF	chr11:55494219-55494520	K562	blood:	n/a	n/a
38	CTCF	chr11:55574348-55574401	GM10266	blood:	n/a	n/a
39	CTCF	chr11:55482847-55483098	GM19238	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
40	CTCF	chr11:55482440-55482590	BE2_C	brain:	n/a	n/a
41	CTCF	chr11:55482920-55483070	BJ	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
42	CTCF	chr11:55474620-55474770	MCF-7	breast:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
43	CTCF	chr11:55494283-55494489	K562	blood:	n/a	n/a
44	CTCF	chr11:55482578-55482681	HepG2	liver:	n/a	n/a
45	CTCF	chr11:55474620-55474770	BJ	skin:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
46	CTCF	chr11:55482580-55482730	GM12874	blood:	n/a	n/a
47	CTCF	chr11:55494240-55494390	RPTEC	kidney:	n/a	n/a
48	CTCF	chr11:55474640-55474790	GM12866	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
49	CTCF	chr11:55474618-55474767	SK-N-SH_RA	brain:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
50	CTCF	chr11:55482860-55483010	HEK293	kidney:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55587764-55587814	HRE	kidney:	n/a
2	chr11:55587764-55587814	HRE	kidney:	n/a
3	chr11:55586264-55586314	IMR90	lung:	fetal
4	chr11:55586264-55586314	GM12878	blood:	n/a
5	chr11:55561545-55561595	NH-A	brain:	n/a
6	chr11:55541269-55541319	AG09319	gingival:	n/a
7	chr11:55594854-55594904	HepG2	liver:	n/a
8	chr11:55586264-55586314	Jurkat	blood:	n/a
9	chr11:55605161-55605211	GM12892	blood:	n/a
10	chr11:55593465-55593515	CMK	blood:	n/a
11	chr11:55586264-55586314	NHDF-neo	bronchial:	n/a
12	chr11:55431584-55431634	SK-N-MC	brain:	n/a
13	chr11:55541018-55541068	NT2-D1	testis:	n/a
14	chr11:55594854-55594904	HRCEpiC	kidney:	n/a
15	chr11:55431584-55431634	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:55541018-55541068	SAEC	small airway:	n/a
17	chr11:55606216-55606266	AoSMC	blood vessel:	n/a
18	chr11:55587104-55587154	K562	blood:	n/a
19	chr11:55593465-55593515	PFSK-1	brain:	n/a
20	chr11:55433005-55433055	SK-N-SH	brain:	n/a
21	chr11:55431584-55431634	GM12878	blood:	n/a
22	chr11:55606216-55606266	GM06990	blood:	n/a
23	chr11:55541269-55541319	ProgFib	skin:	n/a
24	chr11:55561545-55561595	T-47D	breast:	n/a
25	chr11:55593465-55593515	Caco-2	colon:	n/a
26	chr11:55586264-55586314	HRPEpiC	eye:	n/a
27	chr11:55433005-55433055	HCM	heart:	n/a
28	chr11:55594854-55594904	HRPEpiC	eye:	n/a
29	chr11:55606710-55606760	AG04449	skin:	fetal
30	chr11:55606710-55606760	NT2-D1	testis:	n/a
31	chr11:55606710-55606760	NH-A	brain:	n/a
32	chr11:55606710-55606760	HCM	heart:	n/a
33	chr11:55593465-55593515	HMEC	breast:	n/a
34	chr11:55541018-55541068	RPTEC	kidney:	n/a
35	chr11:55593465-55593515	BJ	skin:	n/a
36	chr11:55431584-55431634	AG09309	skin:	n/a
37	chr11:55586293-55586343	CMK	blood:	n/a
38	chr11:55593465-55593515	HepG2	liver:	n/a
39	chr11:55541269-55541319	K562	blood:	n/a
40	chr11:55593465-55593515	SKMC	muscle:	n/a
41	chr11:55586293-55586343	HMEC	breast:	n/a
42	chr11:55606216-55606266	HIPEpiC	eye:	n/a
43	chr11:55433005-55433055	ovcar-3	ovarian:	n/a
44	chr11:55431152-55431202	AoSMC	blood vessel:	n/a
45	chr11:55431584-55431634	HL-60	blood:	n/a
46	chr11:55541018-55541068	NHDF-neo	bronchial:	n/a
47	chr11:55593465-55593515	H1-hESC	embryonic stem cell:	embryo
48	chr11:55579363-55579413	Caco-2	colon:	n/a
49	chr11:55606216-55606266	U87	brain:	n/a
50	chr11:55579363-55579413	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
2	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:
3	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
4	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
5	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
6	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-1	chr11:55453377-55453636	ENSG00000254804
2	lnc-OR4C11-1	chr11:55451617-55451701	ENSG00000254804

Variant related genes	Relation type
OR5D13	TF binding region
OR5D15P	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR4C6	TF binding region
ENSG00000254804	TF binding region
OR5L1	TF binding region
OR5L2	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR5D16	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR5D3P	TF binding region
OR5D13	CpG island
OR5D15P	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR4C6	CpG island
ENSG00000254804	CpG island
OR5L1	CpG island
OR5L2	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR5D16	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR5D3P	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 513 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548720078	chr11:55431153-55431154	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs11230590	chr11:55431176-55431177	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34293156	chr11:55431190-55431191	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs375383454	chr11:55431584-55431585	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs575525366	chr11:55431619-55431620	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs549326143	chr11:55431625-55431626	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs536671610	chr11:55431816-55431817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571839817	chr11:55436579-55436580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577408236	chr11:55436601-55436602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576147558	chr11:55436867-55436868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543922725	chr11:55436894-55436895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140143215	chr11:55436902-55436903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs577808275	chr11:55436904-55436905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1812809	chr11:55436929-55436930	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560466563	chr11:55436947-55436948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs527242624	chr11:55436950-55436951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs558699341	chr11:55437022-55437023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373607427	chr11:55437071-55437072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs542661517	chr11:55437110-55437111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs17498926	chr11:55437126-55437127	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs193222701	chr11:55437156-55437157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs34162957	chr11:55437180-55437181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs185389736	chr11:55439940-55439941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150437389	chr11:55446351-55446352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192704580	chr11:55446405-55446406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs117507227	chr11:55446421-55446422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7929411	chr11:55449139-55449140	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556230305	chr11:55449142-55449143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs7940692	chr11:55449149-55449150	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528220186	chr11:55449160-55449161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555296649	chr11:55449176-55449177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs141834129	chr11:55449179-55449180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs544530235	chr11:55449210-55449211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181819640	chr11:55449267-55449268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs186538497	chr11:55449280-55449281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs541998138	chr11:55449289-55449290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565721944	chr11:55449316-55449317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs187950310	chr11:55451200-55451201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200348590	chr11:55451227-55451228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541831962	chr11:55451239-55451240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs563688858	chr11:55451240-55451241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530985166	chr11:55451242-55451243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150808927	chr11:55451246-55451247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs377317391	chr11:55451265-55451266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs139204909	chr11:55451273-55451274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201067919	chr11:55451281-55451282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs532246914	chr11:55451307-55451308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11230661	chr11:55451313-55451314	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565860012	chr11:55451319-55451320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs202220681	chr11:55451335-55451336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
5	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
6	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links