Variant report

Variant	nsv555087
Chromosome Location	chr11:55695156-55728281
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	chr11:55710296-55710606	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:55704335-55704572	HepG2	liver:	n/a	chr11:55704400-55704413 chr11:55704401-55704412
3	CEBPB	chr11:55698713-55698910	A549	lung:	n/a	n/a
4	CTCF	chr11:55710640-55710790	HMEC	breast:	n/a	n/a
5	CTCF	chr11:55710380-55710530	GM12871	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
6	CTCF	chr11:55710400-55710550	WERI-Rb-1	eye:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
7	CTCF	chr11:55710340-55710538	Gliobla	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
8	CTCF	chr11:55710400-55710550	WI-38	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
9	CTCF	chr11:55710366-55710547	GM10248	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
10	CTCF	chr11:55710360-55710510	SAEC	small airway:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
11	CTCF	chr11:55710300-55710550	HRPEpiC	eye:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
12	CTCF	chr11:55710320-55710470	SAEC	small airway:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
13	CTCF	chr11:55710320-55710470	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
14	CTCF	chr11:55710340-55710490	HCT-116	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
15	CTCF	chr11:55710380-55710530	HEEpiC	esophagus:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
16	CTCF	chr11:55710320-55710470	HMEC	breast:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
17	CTCF	chr11:55710297-55710586	H1-hESC	embryonic stem cell:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
18	CTCF	chr11:55710380-55710530	HCFaa	heart:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
19	CTCF	chr11:55710360-55710510	GM12878	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
20	CTCF	chr11:55710397-55710474	GM20000	blood:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
21	CTCF	chr11:55710282-55710658	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
22	CTCF	chr11:55710320-55710470	AoAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
23	CTCF	chr11:55710380-55710530	GM06990	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
24	CTCF	chr11:55710380-55710530	GM12866	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
25	CTCF	chr11:55710360-55710510	GM12865	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
26	CTCF	chr11:55710400-55710550	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
27	CTCF	chr11:55710300-55710450	GM12870	blood:	n/a	n/a
28	CTCF	chr11:55710420-55710570	GM12867	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
29	CTCF	chr11:55710333-55710524	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
30	CTCF	chr11:55710420-55710570	NHDF-neo	bronchial:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
31	CTCF	chr11:55710400-55710550	GM12864	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
32	CTCF	chr11:55710340-55710490	GM12864	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
33	CTCF	chr11:55710320-55710470	AG04450	lung:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
34	CTCF	chr11:55710340-55710490	HUVEC	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
35	CTCF	chr11:55710360-55710510	AG10803	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
36	CTCF	chr11:55710340-55710550	GM10266	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
37	CTCF	chr11:55710400-55710550	SK-N-SH_RA	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
38	CTCF	chr11:55710340-55710490	GM12873	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
39	CTCF	chr11:55710316-55710565	HCT-116	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
40	CTCF	chr11:55710180-55710330	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr11:55710380-55710530	HFF-Myc	foreskin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
42	CTCF	chr11:55710351-55710527	HepG2	liver:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
43	CTCF	chr11:55710132-55711168	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
44	CTCF	chr11:55710380-55710530	HMF	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
45	CTCF	chr11:55710360-55710510	HRE	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
46	CTCF	chr11:55710360-55710510	AG09309	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
47	CTCF	chr11:55710380-55710530	HPAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
48	CTCF	chr11:55710360-55710510	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
49	CTCF	chr11:55710440-55710590	AG09319	gingival:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
50	CTCF	chr11:55710300-55710450	BE2_C	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55705284-55705334	NT2-D1	testis:	n/a
2	chr11:55704364-55704414	AG09319	gingival:	n/a
3	chr11:55705284-55705334	K562	blood:	n/a
4	chr11:55705284-55705334	Caco-2	colon:	n/a
5	chr11:55703443-55703493	NB4	blood:	n/a
6	chr11:55705284-55705334	ECC-1	luminal epithelium:	n/a
7	chr11:55703443-55703493	CMK	blood:	n/a
8	chr11:55704364-55704414	HNPCEpiC	eye:	n/a
9	chr11:55704364-55704414	ProgFib	skin:	n/a
10	chr11:55703443-55703493	Hela-S3	cervix:	n/a
11	chr11:55704364-55704414	Hepatocyte	liver:	n/a
12	chr11:55705284-55705334	SAEC	small airway:	n/a
13	chr11:55704601-55704651	HMEC	breast:	n/a
14	chr11:55704601-55704651	PrEC	prostate:	n/a
15	chr11:55703443-55703493	HCPEpiC	choroid plexus:	n/a
16	chr11:55703443-55703493	HCT-116	colon:	n/a
17	chr11:55704364-55704414	HCF	heart:	n/a
18	chr11:55704364-55704414	RPTEC	kidney:	n/a
19	chr11:55705284-55705334	SK-N-SH_RA	brain:	n/a
20	chr11:55703443-55703493	Hepatocyte	liver:	n/a
21	chr11:55705284-55705334	NB4	blood:	n/a
22	chr11:55704364-55704414	K562	blood:	n/a
23	chr11:55704601-55704651	HNPCEpiC	eye:	n/a
24	chr11:55704364-55704414	Jurkat	blood:	n/a
25	chr11:55705284-55705334	HNPCEpiC	eye:	n/a
26	chr11:55704364-55704414	SK-N-SH	brain:	n/a
27	chr11:55704601-55704651	Hepatocyte	liver:	n/a
28	chr11:55704601-55704651	HEK293	kidney:	embryo
29	chr11:55705284-55705334	GM06990	blood:	n/a
30	chr11:55703443-55703493	PrEC	prostate:	n/a
31	chr11:55703443-55703493	HEEpiC	esophagus:	n/a
32	chr11:55704601-55704651	ProgFib	skin:	n/a
33	chr11:55703443-55703493	SKMC	muscle:	n/a
34	chr11:55704601-55704651	BJ	skin:	n/a
35	chr11:55704601-55704651	HIPEpiC	eye:	n/a
36	chr11:55704601-55704651	HRCEpiC	kidney:	n/a
37	chr11:55705284-55705334	AG04449	skin:	fetal
38	chr11:55704364-55704414	AG10803	skin:	n/a
39	chr11:55704601-55704651	HRPEpiC	eye:	n/a
40	chr11:55703443-55703493	BJ	skin:	n/a
41	chr11:55704364-55704414	HCT-116	colon:	n/a
42	chr11:55704601-55704651	SAEC	small airway:	n/a
43	chr11:55704601-55704651	K562	blood:	n/a
44	chr11:55704601-55704651	RPTEC	kidney:	n/a
45	chr11:55703443-55703493	GM12891	blood:	n/a
46	chr11:55703443-55703493	NH-A	brain:	n/a
47	chr11:55704364-55704414	HAEpiC	amniotic membrane:	n/a
48	chr11:55705284-55705334	GM12878	blood:	n/a
49	chr11:55703443-55703493	ProgFib	skin:	n/a
50	chr11:55703443-55703493	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55702690..55706471-chr11:55707075..55709513,3	MCF-7	breast:
2	chr11:55726290..55727933-chr11:55735253..55737882,2	K562	blood:
3	chr11:55698028..55700897-chr11:55714005..55716618,2	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
OR10AK1P	TF binding region
OR5I1	TF binding region
OR10AF1P	CpG island
OR10AK1P	CpG island
OR5I1	CpG island
ENSG00000167825	chromatin interactions
ENSG00000255416	chromatin interactions
ENSG00000174970	chromatin interactions

Extended variants
information (count: 358 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577017087	chr11:55698033-55698034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570542629	chr11:55698040-55698041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539514588	chr11:55698041-55698042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140177020	chr11:55698042-55698043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7941718	chr11:55698048-55698049	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559576107	chr11:55698076-55698077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138222239	chr11:55698099-55698100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs36088468	chr11:55698107-55698108	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192574287	chr11:55698126-55698127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61894170	chr11:55698164-55698165	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546319335	chr11:55698235-55698236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565117221	chr11:55698258-55698259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532306918	chr11:55698268-55698269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149579300	chr11:55698284-55698285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77113517	chr11:55698352-55698353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574809667	chr11:55698354-55698355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529706762	chr11:55698358-55698359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9667319	chr11:55698444-55698445	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74780821	chr11:55698494-55698495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536792311	chr11:55698499-55698500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558217894	chr11:55698519-55698520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9667699	chr11:55698587-55698588	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113926518	chr11:55698597-55698598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553272242	chr11:55698604-55698605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575065811	chr11:55698605-55698606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542490129	chr11:55698614-55698615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189000396	chr11:55698616-55698617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145180212	chr11:55698629-55698630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201226343	chr11:55698640-55698641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs193143790	chr11:55698661-55698662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9666864	chr11:55698689-55698690	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9667335	chr11:55698707-55698708	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9667708	chr11:55698751-55698752	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532370142	chr11:55698777-55698778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541192191	chr11:55698816-55698817	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61894171	chr11:55698844-55698845	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529972647	chr11:55698867-55698868	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77521421	chr11:55698891-55698892	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569588921	chr11:55698977-55698978	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530383525	chr11:55698995-55698996	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9667688	chr11:55698998-55698999	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs61894172	chr11:55699031-55699032	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372810307	chr11:55699065-55699066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553321854	chr11:55699096-55699097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568639057	chr11:55699154-55699155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144297074	chr11:55699159-55699160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557592728	chr11:55699165-55699166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112862462	chr11:55699174-55699175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115814191	chr11:55699179-55699180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552350354	chr11:55699186-55699187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55698800-55699000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:55717000-55717400	Enhancers	Pancreas	Pancrea

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