Variant report

Variant	esv3411242
Chromosome Location	chr11:55423425-55482852
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	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
3	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
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	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:55427039-55427080	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
10	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
11	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
12	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
13	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
14	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
15	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
16	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
17	CTCF	chr11:55482841-55483092	Medullo	brain:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
18	CTCF	chr11:55474651-55474772	Kidney_OC	kidney:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
19	CTCF	chr11:55474580-55474730	AG04450	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
20	CTCF	chr11:55474600-55474750	RPTEC	kidney:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
21	CTCF	chr11:55482680-55482830	Caco-2	colon:	n/a	n/a
22	CTCF	chr11:55474597-55474777	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
23	CTCF	chr11:55474638-55474796	Gliobla	brain:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
24	CTCF	chr11:55474620-55474770	HPAF	blood vessel:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
25	CTCF	chr11:55474620-55474770	AG09309	skin:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
26	CTCF	chr11:55474640-55474790	GM12872	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
27	CTCF	chr11:55482600-55482750	GM12865	blood:	n/a	n/a
28	CTCF	chr11:55474620-55474770	GM12864	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
29	CTCF	chr11:55474641-55474779	Spleen_OC	spleen:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
30	CTCF	chr11:55474540-55474690	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:55474600-55474750	GM12873	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
32	CTCF	chr11:55474668-55474737	MCF-7	breast:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
33	CTCF	chr11:55474560-55474710	HL-60	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
34	CTCF	chr11:55474508-55474885	IMR90	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
35	CTCF	chr11:55482557-55482729	Gliobla	brain:	n/a	n/a
36	CTCF	chr11:55474520-55474670	HRE	kidney:	n/a	n/a
37	CTCF	chr11:55482820-55482970	SAEC	small airway:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
38	CTCF	chr11:55482652-55482664	GM20000	blood:	n/a	n/a
39	CTCF	chr11:55482841-55483048	T-47D	breast:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
40	CTCF	chr11:55474580-55474730	K562	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
41	CTCF	chr11:55482852-55483088	GM12878	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
42	CTCF	chr11:55474680-55474830	GM12871	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
43	CTCF	chr11:55482840-55482990	GM12870	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
44	CTCF	chr11:55474640-55474790	HUVEC	blood vessel:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
45	CTCF	chr11:55474660-55474810	HVMF	connective:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
46	CTCF	chr11:55482458-55483135	GM12878	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
47	CTCF	chr11:55474640-55474795	GM13976	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
48	CTCF	chr11:55474593-55474801	Hela-S3	cervix:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
49	CTCF	chr11:55474580-55474730	HRE	kidney:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
50	CTCF	chr11:55474600-55474750	GM12869	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55431584-55431634	HMEC	breast:	n/a
2	chr11:55431584-55431634	H1-hESC	embryonic stem cell:	embryo
3	chr11:55431584-55431634	HMEC	breast:	n/a
4	chr11:55431584-55431634	H1-hESC	embryonic stem cell:	embryo
5	chr11:55431152-55431202	HRE	kidney:	n/a
6	chr11:55433005-55433055	RPTEC	kidney:	n/a
7	chr11:55431152-55431202	HEK293	kidney:	embryo
8	chr11:55433005-55433055	HepG2	liver:	n/a
9	chr11:55431152-55431202	AG04450	lung:	fetal
10	chr11:55433005-55433055	HL-60	blood:	n/a
11	chr11:55431152-55431202	PFSK-1	brain:	n/a
12	chr11:55431584-55431634	PrEC	prostate:	n/a
13	chr11:55431152-55431202	Jurkat	blood:	n/a
14	chr11:55431152-55431202	HEEpiC	esophagus:	n/a
15	chr11:55433005-55433055	GM06990	blood:	n/a
16	chr11:55431584-55431634	HEK293	kidney:	embryo
17	chr11:55433005-55433055	IMR90	lung:	fetal
18	chr11:55431152-55431202	IMR90	lung:	fetal
19	chr11:55431584-55431634	MCF-7	breast:	n/a
20	chr11:55431152-55431202	MCF-7	breast:	n/a
21	chr11:55431584-55431634	SKMC	muscle:	n/a
22	chr11:55433005-55433055	NB4	blood:	n/a
23	chr11:55433005-55433055	Caco-2	colon:	n/a
24	chr11:55433005-55433055	BE2_C	brain:	n/a
25	chr11:55433005-55433055	GM12892	blood:	n/a
26	chr11:55431584-55431634	ECC-1	luminal epithelium:	n/a
27	chr11:55433005-55433055	MCF-7	breast:	n/a
28	chr11:55431584-55431634	SK-N-SH_RA	brain:	n/a
29	chr11:55431152-55431202	HNPCEpiC	eye:	n/a
30	chr11:55431152-55431202	AG09319	gingival:	n/a
31	chr11:55433005-55433055	GM12891	blood:	n/a
32	chr11:55431584-55431634	HRCEpiC	kidney:	n/a
33	chr11:55433005-55433055	HNPCEpiC	eye:	n/a
34	chr11:55433005-55433055	H1-hESC	embryonic stem cell:	embryo
35	chr11:55433005-55433055	HMEC	breast:	n/a
36	chr11:55431584-55431634	IMR90	lung:	fetal
37	chr11:55433005-55433055	GM19239	blood:	n/a
38	chr11:55431152-55431202	ECC-1	luminal epithelium:	n/a
39	chr11:55433005-55433055	AG09309	skin:	n/a
40	chr11:55433005-55433055	SK-N-SH	brain:	n/a
41	chr11:55431584-55431634	Jurkat	blood:	n/a
42	chr11:55431152-55431202	LNCaP	prostate:	n/a
43	chr11:55431584-55431634	GM06990	blood:	n/a
44	chr11:55433005-55433055	U87	brain:	n/a
45	chr11:55433005-55433055	ovcar-3	ovarian:	n/a
46	chr11:55431152-55431202	HepG2	liver:	n/a
47	chr11:55431584-55431634	NHBE	bronchial:	n/a
48	chr11:55433005-55433055	LNCaP	prostate:	n/a
49	chr11:55431584-55431634	Caco-2	colon:	n/a
50	chr11:55431584-55431634	HCF	heart:	n/a

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
OR4C6	TF binding region
ENSG00000254804	TF binding region
OR5D2P	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR4C6	CpG island
ENSG00000254804	CpG island
OR5D2P	CpG island
OR4V1P	CpG island
OR4P1P	CpG island

Extended variants
information (count: 258 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

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: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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 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

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