Variant report

Variant	esv12024
Chromosome Location	chr11:55422345-55603590
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	ATF2	chr11:55425450-55425874	GM12878	blood:	n/a	n/a
2	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
3	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
4	BATF	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:55427039-55427080	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
9	CCNT2	chr11:55598241-55598440	K562	blood:	n/a	n/a
10	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
11	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
13	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
14	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
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	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
17	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
18	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
19	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
20	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
21	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
22	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
23	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
24	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
25	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
26	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
27	CTCF	chr11:55482804-55482989	K562	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
28	CTCF	chr11:55482944-55482992	MCF-7	breast:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
29	CTCF	chr11:55474580-55474730	HEEpiC	esophagus:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
30	CTCF	chr11:55482500-55482650	BE2_C	brain:	n/a	n/a
31	CTCF	chr11:55482540-55482690	GM12872	blood:	n/a	n/a
32	CTCF	chr11:55482840-55482990	AG09309	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
33	CTCF	chr11:55474608-55474762	HepG2	liver:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
34	CTCF	chr11:55482835-55483028	LNCaP	prostate:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
35	CTCF	chr11:55482840-55482990	GM12870	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
36	CTCF	chr11:55474680-55474830	AG04450	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
37	CTCF	chr11:55474651-55474772	Kidney_OC	kidney:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
38	CTCF	chr11:55482840-55482990	NHEK	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
39	CTCF	chr11:55494336-55494481	LNCaP	prostate:	n/a	n/a
40	CTCF	chr11:55470140-55470290	AG10803	skin:	n/a	n/a
41	CTCF	chr11:55482929-55483049	GM19239	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
42	CTCF	chr11:55494340-55494504	GM12891	blood:	n/a	n/a
43	CTCF	chr11:55482920-55483070	SAEC	small airway:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
44	CTCF	chr11:55474640-55474790	GM12866	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
45	CTCF	chr11:55494280-55494430	GM12874	blood:	n/a	n/a
46	CTCF	chr11:55474497-55474797	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
47	CTCF	chr11:55482880-55483030	NB4	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
48	CTCF	chr11:55494060-55494210	GM12865	blood:	n/a	n/a
49	CTCF	chr11:55482860-55483010	HEK293	kidney:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
50	CTCF	chr11:55482900-55483050	HMF	breast:	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	chr11:55594854-55594904	GM06990	blood:	n/a
2	chr11:55594854-55594904	GM06990	blood:	n/a
3	chr11:55593465-55593515	NH-A	brain:	n/a
4	chr11:55593465-55593515	U87	brain:	n/a
5	chr11:55431152-55431202	MCF-7	breast:	n/a
6	chr11:55587104-55587154	ECC-1	luminal epithelium:	n/a
7	chr11:55579363-55579413	A549	lung:	n/a
8	chr11:55433005-55433055	CMK	blood:	n/a
9	chr11:55433005-55433055	SAEC	small airway:	n/a
10	chr11:55433005-55433055	HEK293	kidney:	embryo
11	chr11:55594854-55594904	AG09319	gingival:	n/a
12	chr11:55586293-55586343	HUVEC	blood vessel:	n/a
13	chr11:55433005-55433055	HMEC	breast:	n/a
14	chr11:55579363-55579413	PFSK-1	brain:	n/a
15	chr11:55579363-55579413	HIPEpiC	eye:	n/a
16	chr11:55593465-55593515	SKMC	muscle:	n/a
17	chr11:55579363-55579413	HepG2	liver:	n/a
18	chr11:55586293-55586343	HEEpiC	esophagus:	n/a
19	chr11:55586264-55586314	HCF	heart:	n/a
20	chr11:55431584-55431634	HEK293	kidney:	embryo
21	chr11:55579363-55579413	HCT-116	colon:	n/a
22	chr11:55433005-55433055	SK-N-SH	brain:	n/a
23	chr11:55586264-55586314	NH-A	brain:	n/a
24	chr11:55577775-55577825	HepG2	liver:	n/a
25	chr11:55541269-55541319	IMR90	lung:	fetal
26	chr11:55579363-55579413	Hela-S3	cervix:	n/a
27	chr11:55587104-55587154	NHDF-neo	bronchial:	n/a
28	chr11:55587104-55587154	SKMC	muscle:	n/a
29	chr11:55431584-55431634	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:55563401-55563451	AG09319	gingival:	n/a
31	chr11:55433005-55433055	GM12878	blood:	n/a
32	chr11:55561545-55561595	HEK293	kidney:	embryo
33	chr11:55561545-55561595	LNCaP	prostate:	n/a
34	chr11:55541269-55541319	AoSMC	blood vessel:	n/a
35	chr11:55577775-55577825	HCF	heart:	n/a
36	chr11:55431584-55431634	Hela-S3	cervix:	n/a
37	chr11:55577775-55577825	HEK293	kidney:	embryo
38	chr11:55563401-55563451	Hepatocyte	liver:	n/a
39	chr11:55561545-55561595	NH-A	brain:	n/a
40	chr11:55587764-55587814	HIPEpiC	eye:	n/a
41	chr11:55587104-55587154	AG04449	skin:	fetal
42	chr11:55541269-55541319	LNCaP	prostate:	n/a
43	chr11:55561545-55561595	NB4	blood:	n/a
44	chr11:55433005-55433055	NHDF-neo	bronchial:	n/a
45	chr11:55541018-55541068	SKMC	muscle:	n/a
46	chr11:55579363-55579413	CMK	blood:	n/a
47	chr11:55594854-55594904	GM12891	blood:	n/a
48	chr11:55593465-55593515	MCF10A-Er-Src	breast:	n/a
49	chr11:55586293-55586343	IMR90	lung:	fetal
50	chr11:55563401-55563451	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
2	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
3	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	blood:
4	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:
5	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
6	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	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
OR5L1	TF binding region
OR5L2	TF binding region
OR5D13	TF binding region
OR5D15P	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR5D16	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR4C6	TF binding region
OR5D3P	TF binding region
ENSG00000254804	TF binding region
OR5L1	CpG island
OR5L2	CpG island
OR5D13	CpG island
OR5D15P	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR5D16	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR4C6	CpG island
OR5D3P	CpG island
ENSG00000254804	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:547 , 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	rs574850250	chr11:55425801-55425802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111247076	chr11:55425835-55425836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535556681	chr11:55425912-55425913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557468761	chr11:55425933-55425934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113578642	chr11:55425977-55425978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543645585	chr11:55426041-55426042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74386160	chr11:55426043-55426044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572341232	chr11:55426060-55426061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577223829	chr11:55426076-55426077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs402386	chr11:55426095-55426096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs55662371	chr11:55426111-55426112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145914741	chr11:55426200-55426201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs384294	chr11:55426218-55426219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186377837	chr11:55426228-55426229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190883863	chr11:55426293-55426294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530965986	chr11:55426317-55426318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552363729	chr11:55426351-55426352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183456978	chr11:55426410-55426411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547554531	chr11:55426428-55426429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371055650	chr11:55426484-55426485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79371689	chr11:55426489-55426490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201472503	chr11:55426536-55426537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544044385	chr11:55426562-55426563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140256330	chr11:55426571-55426572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562505452	chr11:55426597-55426598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76222782	chr11:55427636-55427637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs138608047	chr11:55427637-55427638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs78859337	chr11:55427670-55427671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs537738437	chr11:55427683-55427684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556562517	chr11:55427698-55427699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs1479130	chr11:55427700-55427701	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550413233	chr11:55429325-55429326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537568457	chr11:55429353-55429354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs188788572	chr11:55429367-55429368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564931517	chr11:55430834-55430835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143093324	chr11:55430844-55430845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548720078	chr11:55431153-55431154	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs11230590	chr11:55431176-55431177	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34293156	chr11:55431190-55431191	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs375383454	chr11:55431584-55431585	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs575525366	chr11:55431619-55431620	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs549326143	chr11:55431625-55431626	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs536671610	chr11:55431816-55431817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571839817	chr11:55436579-55436580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs577408236	chr11:55436601-55436602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs576147558	chr11:55436867-55436868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543922725	chr11:55436894-55436895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs140143215	chr11:55436902-55436903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs577808275	chr11:55436904-55436905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs1812809	chr11:55436929-55436930	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
2	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
7	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
8	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

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