Variant report

Variant	nsv555088
Chromosome Location	chr11:55703650-55729751
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	chr11:55704335-55704572	HepG2	liver:	n/a	chr11:55704400-55704413 chr11:55704401-55704412
2	CEBPB	chr11:55710296-55710606	HepG2	liver:	n/a	n/a
3	CTCF	chr11:55710319-55710566	HepG2	liver:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
4	CTCF	chr11:55710360-55710510	AoAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
5	CTCF	chr11:55710440-55710590	GM12874	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
6	CTCF	chr11:55710362-55710538	GM13976	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
7	CTCF	chr11:55717015-55717022	GM12892	blood:	n/a	n/a
8	CTCF	chr11:55710380-55710530	HCFaa	heart:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
9	CTCF	chr11:55710320-55710470	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
10	CTCF	chr11:55710284-55710595	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
11	CTCF	chr11:55710337-55710574	HUVEC	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
12	CTCF	chr11:55710314-55710503	SK-N-SH_RA	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
13	CTCF	chr11:55710280-55710430	HCT-116	colon:	n/a	n/a
14	CTCF	chr11:55710400-55710550	GM06990	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
15	CTCF	chr11:55710440-55710590	AG04449	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
16	CTCF	chr11:55710360-55710510	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
17	CTCF	chr11:55710380-55710530	NHDF-neo	bronchial:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
18	CTCF	chr11:55710340-55710490	GM12864	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
19	CTCF	chr11:55710400-55710550	HL-60	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
20	CTCF	chr11:55710346-55710564	LNCaP	prostate:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
21	CTCF	chr11:55710320-55710470	HVMF	connective:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
22	CTCF	chr11:55710380-55710530	GM12866	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
23	CTCF	chr11:55710282-55710658	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
24	CTCF	chr11:55710380-55710530	BE2_C	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
25	CTCF	chr11:55710360-55710510	GM12873	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
26	CTCF	chr11:55710320-55710470	HEK293	kidney:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
27	CTCF	chr11:55710380-55710530	AG09319	gingival:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
28	CTCF	chr11:55710380-55710530	HPAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
29	CTCF	chr11:55710364-55710548	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
30	CTCF	chr11:55710360-55710510	GM12872	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
31	CTCF	chr11:55710380-55710530	Caco-2	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
32	CTCF	chr11:55710400-55710550	SK-N-SH_RA	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
33	CTCF	chr11:55710380-55710530	HEEpiC	esophagus:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
34	CTCF	chr11:55710340-55710490	HCT-116	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
35	CTCF	chr11:55716920-55717067	A549	lung:	n/a	n/a
36	CTCF	chr11:55710213-55710569	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
37	CTCF	chr11:55710360-55710510	SAEC	small airway:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
38	CTCF	chr11:55710385-55710551	Kidney_OC	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
39	CTCF	chr11:55710320-55710470	HFF	foreskin:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
40	CTCF	chr11:55716914-55717067	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:55710340-55710538	Gliobla	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
42	CTCF	chr11:55710380-55710530	GM12865	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
43	CTCF	chr11:55710360-55710510	NHEK	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
44	CTCF	chr11:55710360-55710510	Hela-S3	cervix:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
45	CTCF	chr11:55710400-55710550	HepG2	liver:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
46	CTCF	chr11:55710377-55710519	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
47	CTCF	chr11:55710353-55710571	Pancreas_OC	pancreas:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
48	CTCF	chr11:55716916-55717057	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:55710251-55710713	GM12878	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
50	CTCF	chr11:55710400-55710550	NHEK	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55705284-55705334	PFSK-1	brain:	n/a
2	chr11:55705284-55705334	PFSK-1	brain:	n/a
3	chr11:55705284-55705334	Hela-S3	cervix:	n/a
4	chr11:55705284-55705334	CMK	blood:	n/a
5	chr11:55704364-55704414	HNPCEpiC	eye:	n/a
6	chr11:55705284-55705334	HEK293	kidney:	embryo
7	chr11:55704601-55704651	H1-hESC	embryonic stem cell:	embryo
8	chr11:55704364-55704414	ECC-1	luminal epithelium:	n/a
9	chr11:55705284-55705334	LNCaP	prostate:	n/a
10	chr11:55704364-55704414	NHBE	bronchial:	n/a
11	chr11:55704601-55704651	SK-N-SH_RA	brain:	n/a
12	chr11:55704364-55704414	SKMC	muscle:	n/a
13	chr11:55704601-55704651	Jurkat	blood:	n/a
14	chr11:55705284-55705334	MCF10A-Er-Src	breast:	n/a
15	chr11:55704601-55704651	HCM	heart:	n/a
16	chr11:55704601-55704651	PFSK-1	brain:	n/a
17	chr11:55704601-55704651	SK-N-SH	brain:	n/a
18	chr11:55705284-55705334	GM06990	blood:	n/a
19	chr11:55704364-55704414	ovcar-3	ovarian:	n/a
20	chr11:55704364-55704414	NHDF-neo	bronchial:	n/a
21	chr11:55704364-55704414	AG10803	skin:	n/a
22	chr11:55704601-55704651	GM12878	blood:	n/a
23	chr11:55704601-55704651	ECC-1	luminal epithelium:	n/a
24	chr11:55704601-55704651	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:55704364-55704414	A549	lung:	n/a
26	chr11:55704364-55704414	Hela-S3	cervix:	n/a
27	chr11:55705284-55705334	K562	blood:	n/a
28	chr11:55705284-55705334	ProgFib	skin:	n/a
29	chr11:55704364-55704414	HAEpiC	amniotic membrane:	n/a
30	chr11:55705284-55705334	SK-N-SH_RA	brain:	n/a
31	chr11:55704601-55704651	A549	lung:	n/a
32	chr11:55704601-55704651	NHDF-neo	bronchial:	n/a
33	chr11:55705284-55705334	HCM	heart:	n/a
34	chr11:55705284-55705334	SK-N-SH	brain:	n/a
35	chr11:55704364-55704414	HRPEpiC	eye:	n/a
36	chr11:55704364-55704414	RPTEC	kidney:	n/a
37	chr11:55704364-55704414	AG09319	gingival:	n/a
38	chr11:55705284-55705334	HRPEpiC	eye:	n/a
39	chr11:55705284-55705334	SAEC	small airway:	n/a
40	chr11:55704364-55704414	SK-N-SH	brain:	n/a
41	chr11:55704364-55704414	K562	blood:	n/a
42	chr11:55704364-55704414	HMEC	breast:	n/a
43	chr11:55705284-55705334	PANC-1	pancreas:	n/a
44	chr11:55705284-55705334	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:55705284-55705334	AoSMC	blood vessel:	n/a
46	chr11:55705284-55705334	HNPCEpiC	eye:	n/a
47	chr11:55704601-55704651	HCF	heart:	n/a
48	chr11:55705284-55705334	SK-N-MC	brain:	n/a
49	chr11:55704364-55704414	BE2_C	brain:	n/a
50	chr11:55705284-55705334	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55702690..55706471-chr11:55707075..55709513,3	MCF-7	breast:
2	chr11:55726290..55727933-chr11:55735253..55737882,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10AG1-1	chr11:55724692-55725106	NONHSAT021375

Variant related genes	Relation type
OR10AF1P	TF binding region
OR5I1	TF binding region
OR10AK1P	TF binding region
OR10AF1P	CpG island
OR5I1	CpG island
OR10AK1P	CpG island
ENSG00000167825	chromatin interactions
ENSG00000174970	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112424540	chr11:55704359-55704360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575702482	chr11:55704361-55704362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192783248	chr11:55704365-55704366	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs376684369	chr11:55704398-55704399	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs559381239	chr11:55704416-55704417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372493663	chr11:55704422-55704423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148116641	chr11:55704432-55704433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12577805	chr11:55704436-55704437	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs149402203	chr11:55704455-55704456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541184682	chr11:55704478-55704479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559264811	chr11:55704519-55704520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574702598	chr11:55704571-55704572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs562707535	chr11:55704601-55704602	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs74363222	chr11:55704616-55704617	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs17597646	chr11:55704618-55704619	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539945479	chr11:55705285-55705286	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs562319702	chr11:55705300-55705301	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs537564789	chr11:55705305-55705306	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs554228902	chr11:55705313-55705314	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs566747008	chr11:55705617-55705618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73463684	chr11:55705638-55705639	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146527819	chr11:55707151-55707152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573668452	chr11:55707157-55707158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149135290	chr11:55707159-55707160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10501341	chr11:55707222-55707223	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61894198	chr11:55707232-55707233	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143260248	chr11:55707243-55707244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560716429	chr11:55707274-55707275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187809455	chr11:55707329-55707330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs17149079	chr11:55707394-55707395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544297204	chr11:55707415-55707416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77189125	chr11:55707416-55707417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs80343040	chr11:55707447-55707448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531553979	chr11:55707472-55707473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551016598	chr11:55707566-55707567	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543533778	chr11:55707633-55707634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565007913	chr11:55707664-55707665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532625978	chr11:55707676-55707677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192621955	chr11:55707684-55707685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566653833	chr11:55707696-55707697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527627462	chr11:55707710-55707711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183000775	chr11:55707716-55707717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12290347	chr11:55707799-55707800	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4312084	chr11:55707804-55707805	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556308536	chr11:55707819-55707820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571287969	chr11:55707825-55707826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs17598017	chr11:55707892-55707893	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554112038	chr11:55707911-55707912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141445660	chr11:55707922-55707923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4631897	chr11:55707955-55707956	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	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
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
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55717000-55717400	Enhancers	Pancreas	Pancrea

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