Variant report

Variant	esv3693085
Chromosome Location	chr11:55367889-55596313
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	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
3	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
4	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
5	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425504-55425830	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	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
10	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
11	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
12	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
13	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
14	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
15	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
16	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
17	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
18	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
19	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
20	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
21	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
22	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
23	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
24	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
25	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
26	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
27	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
28	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
30	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
31	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
32	CTCF	chr11:55474580-55474730	HEEpiC	esophagus:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
33	CTCF	chr11:55482540-55482690	GM12872	blood:	n/a	n/a
34	CTCF	chr11:55482652-55482664	GM20000	blood:	n/a	n/a
35	CTCF	chr11:55494335-55494434	GM19239	blood:	n/a	n/a
36	CTCF	chr11:55474540-55474690	HVMF	connective:	n/a	n/a
37	CTCF	chr11:55494312-55494503	GM12892	blood:	n/a	n/a
38	CTCF	chr11:55482940-55483090	HFF-Myc	foreskin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
39	CTCF	chr11:55474640-55474790	HPF	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
40	CTCF	chr11:55482944-55482992	MCF-7	breast:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
41	CTCF	chr11:55494280-55494430	GM12865	blood:	n/a	n/a
42	CTCF	chr11:55494315-55494514	GM19240	blood:	n/a	n/a
43	CTCF	chr11:55474620-55474770	AG09309	skin:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
44	CTCF	chr11:55482880-55483030	HUVEC	blood vessel:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
45	CTCF	chr11:55474620-55474770	GM12865	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
46	CTCF	chr11:55482834-55483043	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
47	CTCF	chr11:55474260-55474410	AG10803	skin:	n/a	n/a
48	CTCF	chr11:55494321-55494490	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:55482920-55483070	HCPEpiC	choroid plexus:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
50	CTCF	chr11:55474569-55474842	HUVEC	blood vessel:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55587104-55587154	NT2-D1	testis:	n/a
2	chr11:55417018-55417068	GM19239	blood:	n/a
3	chr11:55586264-55586314	LNCaP	prostate:	n/a
4	chr11:55431152-55431202	PFSK-1	brain:	n/a
5	chr11:55371077-55371127	A549	lung:	n/a
6	chr11:55587104-55587154	Jurkat	blood:	n/a
7	chr11:55417018-55417068	HCF	heart:	n/a
8	chr11:55586264-55586314	HAEpiC	amniotic membrane:	n/a
9	chr11:55541269-55541319	HRCEpiC	kidney:	n/a
10	chr11:55587764-55587814	HL-60	blood:	n/a
11	chr11:55594854-55594904	T-47D	breast:	n/a
12	chr11:55541018-55541068	HCF	heart:	n/a
13	chr11:55586293-55586343	MCF-7	breast:	n/a
14	chr11:55417018-55417068	U87	brain:	n/a
15	chr11:55586264-55586314	H1-hESC	embryonic stem cell:	embryo
16	chr11:55417018-55417068	BJ	skin:	n/a
17	chr11:55594854-55594904	RPTEC	kidney:	n/a
18	chr11:55593465-55593515	SK-N-MC	brain:	n/a
19	chr11:55417018-55417068	SK-N-MC	brain:	n/a
20	chr11:55433005-55433055	HAEpiC	amniotic membrane:	n/a
21	chr11:55417018-55417068	MCF10A-Er-Src	breast:	n/a
22	chr11:55417018-55417068	A549	lung:	n/a
23	chr11:55541269-55541319	NHDF-neo	bronchial:	n/a
24	chr11:55563401-55563451	GM12892	blood:	n/a
25	chr11:55417018-55417068	Hepatocyte	liver:	n/a
26	chr11:55577775-55577825	GM19239	blood:	n/a
27	chr11:55418816-55418866	SK-N-MC	brain:	n/a
28	chr11:55587764-55587814	SK-N-SH_RA	brain:	n/a
29	chr11:55406191-55406241	HEK293	kidney:	embryo
30	chr11:55431584-55431634	AoSMC	blood vessel:	n/a
31	chr11:55587764-55587814	GM12892	blood:	n/a
32	chr11:55406191-55406241	HCM	heart:	n/a
33	chr11:55593465-55593515	K562	blood:	n/a
34	chr11:55371077-55371127	AG10803	skin:	n/a
35	chr11:55593465-55593515	HL-60	blood:	n/a
36	chr11:55431584-55431634	HMEC	breast:	n/a
37	chr11:55594854-55594904	K562	blood:	n/a
38	chr11:55594854-55594904	AG09319	gingival:	n/a
39	chr11:55561545-55561595	MCF-7	breast:	n/a
40	chr11:55561545-55561595	GM19239	blood:	n/a
41	chr11:55593465-55593515	LNCaP	prostate:	n/a
42	chr11:55418816-55418866	HepG2	liver:	n/a
43	chr11:55587104-55587154	HUVEC	blood vessel:	n/a
44	chr11:55587104-55587154	HCF	heart:	n/a
45	chr11:55587764-55587814	PFSK-1	brain:	n/a
46	chr11:55406191-55406241	HRPEpiC	eye:	n/a
47	chr11:55433005-55433055	AG04449	skin:	fetal
48	chr11:55587764-55587814	ECC-1	luminal epithelium:	n/a
49	chr11:55406191-55406241	AG09319	gingival:	n/a
50	chr11:55541018-55541068	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
2	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
3	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
4	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	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
OR4S2	TF binding region
OR5D13	TF binding region
OR5D15P	TF binding region
OR4P4	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR4C6	TF binding region
ENSG00000254804	TF binding region
OR4C11	TF binding region
OR5L1	TF binding region
OR5L2	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR5D3P	TF binding region
OR4S2	CpG island
OR5D13	CpG island
OR5D15P	CpG island
OR4P4	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR4C6	CpG island
ENSG00000254804	CpG island
OR4C11	CpG island
OR5L1	CpG island
OR5L2	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR5D3P	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 1031 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1031 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538362316	chr11:55372471-55372472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570266651	chr11:55372478-55372479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556871800	chr11:55372481-55372482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs370690732	chr11:55373468-55373469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528328550	chr11:55373480-55373481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542294519	chr11:55395828-55395829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112479002	chr11:55395846-55395847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113205148	chr11:55395860-55395861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs36062315	chr11:55395886-55395887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531353248	chr11:55395899-55395900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12364838	chr11:55395922-55395923	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145473853	chr11:55395935-55395936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557751521	chr11:55395939-55395940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532821177	chr11:55395941-55395942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544127405	chr11:55395948-55395949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189955667	chr11:55395966-55395967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373896490	chr11:55395970-55395971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116162984	chr11:55396018-55396019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368155909	chr11:55396031-55396032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs180804020	chr11:55396040-55396041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10897108	chr11:55396041-55396042	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12361051	chr11:55396055-55396056	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537149724	chr11:55396061-55396062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148842153	chr11:55396079-55396080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs143517164	chr11:55396080-55396081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs111341928	chr11:55396107-55396108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34553202	chr11:55396184-55396185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571186755	chr11:55396195-55396196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572293421	chr11:55396207-55396208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77038864	chr11:55396235-55396236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560725717	chr11:55396238-55396239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12421157	chr11:55396301-55396302	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570626053	chr11:55396302-55396303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543560110	chr11:55396343-55396344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565449607	chr11:55396368-55396369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532729301	chr11:55396378-55396379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs76794057	chr11:55396399-55396400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559985094	chr11:55396426-55396427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113279056	chr11:55396470-55396471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567012179	chr11:55396487-55396488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142219064	chr11:55396507-55396508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569957781	chr11:55396527-55396528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201168152	chr11:55396536-55396537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76788391	chr11:55396545-55396546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs386373835	chr11:55396546-55396547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199776545	chr11:55396547-55396548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs398115399	chr11:55396551-55396552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371343350	chr11:55396552-55396553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371169330	chr11:55396555-55396556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374139389	chr11:55396556-55396557	ZNF genes & repeats	n/a	n/a	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
3	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
4	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
5	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
7	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
8	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
9	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
14	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
15	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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