Variant report

Variant	esv2756722
Chromosome Location	chr11:55437126-55483713
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	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
2	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
3	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
4	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
5	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
6	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
7	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
8	CTCF	chr11:55482920-55483070	GM12875	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
9	CTCF	chr11:55474680-55474830	HCM	heart:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
10	CTCF	chr11:55474660-55474810	BJ	skin:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
11	CTCF	chr11:55482860-55483010	GM12868	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
12	CTCF	chr11:55482900-55483050	SK-N-SH_RA	brain:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
13	CTCF	chr11:55482867-55483088	GM12892	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
14	CTCF	chr11:55482840-55482990	NHEK	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
15	CTCF	chr11:55482840-55482990	BE2_C	brain:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
16	CTCF	chr11:55474651-55474772	Kidney_OC	kidney:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
17	CTCF	chr11:55474720-55474870	BE2_C	brain:	n/a	n/a
18	CTCF	chr11:55474660-55474810	GM12872	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
19	CTCF	chr11:55474580-55474730	K562	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
20	CTCF	chr11:55474640-55474790	HPAF	blood vessel:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
21	CTCF	chr11:55474640-55474790	HEEpiC	esophagus:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
22	CTCF	chr11:55474296-55475084	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
23	CTCF	chr11:55474620-55474770	HRPEpiC	eye:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
24	CTCF	chr11:55482740-55482890	GM12878	blood:	n/a	n/a
25	CTCF	chr11:55482900-55483050	GM12872	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
26	CTCF	chr11:55474640-55474795	GM13976	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
27	CTCF	chr11:55474600-55474750	HCT-116	colon:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
28	CTCF	chr11:55474620-55474770	MCF-7	breast:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
29	CTCF	chr11:55482440-55482590	BE2_C	brain:	n/a	n/a
30	CTCF	chr11:55474631-55474802	Pancreas_OC	pancreas:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
31	CTCF	chr11:55474580-55474730	HEEpiC	esophagus:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
32	CTCF	chr11:55474640-55474790	GM12872	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
33	CTCF	chr11:55482880-55483030	HUVEC	blood vessel:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
34	CTCF	chr11:55482557-55482729	Gliobla	brain:	n/a	n/a
35	CTCF	chr11:55482876-55483025	GM10266	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
36	CTCF	chr11:55482774-55483052	SK-N-SH_RA	brain:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
37	CTCF	chr11:55474600-55474826	GM13977	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
38	CTCF	chr11:55474640-55474790	GM12873	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
39	CTCF	chr11:55482922-55483009	MCF-7	breast:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
40	CTCF	chr11:55474620-55474770	HPF	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
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	chr11:55474260-55474410	AG10803	skin:	n/a	n/a
43	CTCF	chr11:55482580-55482730	GM12865	blood:	n/a	n/a
44	CTCF	chr11:55474609-55474828	LNCaP	prostate:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
45	CTCF	chr11:55474620-55474770	HMEC	breast:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
46	CTCF	chr11:55474540-55474690	NHLF	lung:	n/a	n/a
47	CTCF	chr11:55482600-55482750	GM12865	blood:	n/a	n/a
48	CTCF	chr11:55474595-55474778	H1-hESC	embryonic stem cell:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
49	CTCF	chr11:55482940-55483090	GM12871	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
50	CTCF	chr11:55482876-55483032	Hela-S3	cervix:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962

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

Variant related genes	Relation type
OR5D2P	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
ENSG00000254804	TF binding region

Extended variants
information (count: 203 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs17498926	chr11:55437126-55437127	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193222701	chr11:55437156-55437157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34162957	chr11:55437180-55437181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs185389736	chr11:55439940-55439941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs150437389	chr11:55446351-55446352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192704580	chr11:55446405-55446406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs117507227	chr11:55446421-55446422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7929411	chr11:55449139-55449140	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556230305	chr11:55449142-55449143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7940692	chr11:55449149-55449150	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528220186	chr11:55449160-55449161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555296649	chr11:55449176-55449177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs141834129	chr11:55449179-55449180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544530235	chr11:55449210-55449211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs181819640	chr11:55449267-55449268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs186538497	chr11:55449280-55449281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541998138	chr11:55449289-55449290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565721944	chr11:55449316-55449317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs187950310	chr11:55451200-55451201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200348590	chr11:55451227-55451228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541831962	chr11:55451239-55451240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563688858	chr11:55451240-55451241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530985166	chr11:55451242-55451243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs150808927	chr11:55451246-55451247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs377317391	chr11:55451265-55451266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139204909	chr11:55451273-55451274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201067919	chr11:55451281-55451282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532246914	chr11:55451307-55451308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11230661	chr11:55451313-55451314	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565860012	chr11:55451319-55451320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs202220681	chr11:55451335-55451336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77303076	chr11:55451398-55451399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs547744621	chr11:55451462-55451463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556267035	chr11:55451468-55451469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569315610	chr11:55451482-55451483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536748806	chr11:55451490-55451491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200295114	chr11:55451499-55451500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201253784	chr11:55451526-55451527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111401106	chr11:55451547-55451548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149971461	chr11:55451549-55451550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528221791	chr11:55451565-55451566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577008684	chr11:55451589-55451590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78825822	chr11:55451592-55451593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145207378	chr11:55451646-55451647	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs140797757	chr11:55451657-55451658	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs116977182	chr11:55451701-55451702	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs201692492	chr11:55451702-55451703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs144748300	chr11:55451735-55451736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77685461	chr11:55451749-55451750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549776625	chr11:55451784-55451785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

Chromatin state (count:2 , 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

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