Variant report

Variant	nsv555075
Chromosome Location	chr11:55460095-55604412
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	CCNT2	chr11:55598241-55598440	K562	blood:	n/a	n/a
2	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
3	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
4	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
5	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
6	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
8	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
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	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
11	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
12	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
13	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
14	CTCF	chr11:55474623-55474740	Lung_OC	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
15	CTCF	chr11:55474296-55475084	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
16	CTCF	chr11:55474640-55474795	GM13976	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
17	CTCF	chr11:55482854-55483105	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
18	CTCF	chr11:55494318-55494488	A549	lung:	n/a	n/a
19	CTCF	chr11:55482620-55482770	GM06990	blood:	n/a	n/a
20	CTCF	chr11:55494320-55494470	GM12865	blood:	n/a	n/a
21	CTCF	chr11:55482500-55482650	K562	blood:	n/a	n/a
22	CTCF	chr11:55482900-55483050	GM12872	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
23	CTCF	chr11:55474600-55474826	GM13977	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
24	CTCF	chr11:55474600-55474750	GM12868	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
25	CTCF	chr11:55579316-55579353	GM13976	blood:	n/a	n/a
26	CTCF	chr11:55494380-55494530	HCT-116	colon:	n/a	n/a
27	CTCF	chr11:55494260-55494410	GM12871	blood:	n/a	n/a
28	CTCF	chr11:55482940-55483090	GM12871	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
29	CTCF	chr11:55482920-55483070	HCT-116	colon:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
30	CTCF	chr11:55482876-55483032	Hela-S3	cervix:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
31	CTCF	chr11:55494355-55494388	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr11:55482878-55483069	GM20000	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
33	CTCF	chr11:55482865-55483065	GM19240	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
34	CTCF	chr11:55494372-55494406	MCF-7	breast:	n/a	n/a
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	chr11:55482860-55483010	GM12868	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
37	CTCF	chr11:55474680-55474830	GM12871	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
38	CTCF	chr11:55474260-55474410	AG10803	skin:	n/a	n/a
39	CTCF	chr11:55494301-55494467	GM12878	blood:	n/a	n/a
40	CTCF	chr11:55474606-55474818	K562	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
41	CTCF	chr11:55494300-55494450	GM12878	blood:	n/a	n/a
42	CTCF	chr11:55482870-55483062	H1-hESC	embryonic stem cell:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
43	CTCF	chr11:55494300-55494450	HEK293	kidney:	n/a	n/a
44	CTCF	chr11:55482840-55482990	AG09309	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
45	CTCF	chr11:55474540-55474690	HFF	foreskin:	n/a	n/a
46	CTCF	chr11:55494249-55494483	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr11:55482880-55483030	MCF-7	breast:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
48	CTCF	chr11:55482880-55483030	HUVEC	blood vessel:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
49	CTCF	chr11:55482540-55482690	GM12872	blood:	n/a	n/a
50	CTCF	chr11:55474638-55474796	Gliobla	brain:	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	HAEpiC	amniotic membrane:	n/a
2	chr11:55587104-55587154	HAEpiC	amniotic membrane:	n/a
3	chr11:55586293-55586343	A549	lung:	n/a
4	chr11:55577775-55577825	HAEpiC	amniotic membrane:	n/a
5	chr11:55593465-55593515	HEEpiC	esophagus:	n/a
6	chr11:55561545-55561595	MCF-7	breast:	n/a
7	chr11:55541269-55541319	HCF	heart:	n/a
8	chr11:55594854-55594904	SKMC	muscle:	n/a
9	chr11:55586293-55586343	HCPEpiC	choroid plexus:	n/a
10	chr11:55587104-55587154	A549	lung:	n/a
11	chr11:55577775-55577825	LNCaP	prostate:	n/a
12	chr11:55541018-55541068	AG09319	gingival:	n/a
13	chr11:55586264-55586314	NH-A	brain:	n/a
14	chr11:55586264-55586314	PrEC	prostate:	n/a
15	chr11:55563401-55563451	H1-hESC	embryonic stem cell:	embryo
16	chr11:55593465-55593515	GM12878	blood:	n/a
17	chr11:55587104-55587154	PFSK-1	brain:	n/a
18	chr11:55577775-55577825	AG10803	skin:	n/a
19	chr11:55587764-55587814	Caco-2	colon:	n/a
20	chr11:55587764-55587814	GM12891	blood:	n/a
21	chr11:55563401-55563451	HEK293	kidney:	embryo
22	chr11:55561545-55561595	Jurkat	blood:	n/a
23	chr11:55541269-55541319	MCF10A-Er-Src	breast:	n/a
24	chr11:55561545-55561595	GM12892	blood:	n/a
25	chr11:55587764-55587814	A549	lung:	n/a
26	chr11:55594854-55594904	K562	blood:	n/a
27	chr11:55561545-55561595	HCT-116	colon:	n/a
28	chr11:55587764-55587814	K562	blood:	n/a
29	chr11:55541269-55541319	ovcar-3	ovarian:	n/a
30	chr11:55587104-55587154	SAEC	small airway:	n/a
31	chr11:55579363-55579413	SK-N-MC	brain:	n/a
32	chr11:55586264-55586314	HIPEpiC	eye:	n/a
33	chr11:55561545-55561595	HRPEpiC	eye:	n/a
34	chr11:55561545-55561595	Caco-2	colon:	n/a
35	chr11:55593465-55593515	PFSK-1	brain:	n/a
36	chr11:55586264-55586314	AG10803	skin:	n/a
37	chr11:55593465-55593515	HRE	kidney:	n/a
38	chr11:55561545-55561595	BJ	skin:	n/a
39	chr11:55587764-55587814	HIPEpiC	eye:	n/a
40	chr11:55577775-55577825	AG04449	skin:	fetal
41	chr11:55579363-55579413	GM12891	blood:	n/a
42	chr11:55587764-55587814	AG10803	skin:	n/a
43	chr11:55594854-55594904	AG04449	skin:	fetal
44	chr11:55561545-55561595	GM06990	blood:	n/a
45	chr11:55587764-55587814	HCPEpiC	choroid plexus:	n/a
46	chr11:55586264-55586314	Hepatocyte	liver:	n/a
47	chr11:55563401-55563451	SAEC	small airway:	n/a
48	chr11:55541269-55541319	HMEC	breast:	n/a
49	chr11:55587104-55587154	MCF10A-Er-Src	breast:	n/a
50	chr11:55593465-55593515	T-47D	breast:	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	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
4	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:
5	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	blood:
6	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:

Variant related genes	Relation type
OR5D13	TF binding region
OR5D15P	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR5L1	TF binding region
OR5L2	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR5D16	TF binding region
OR5D3P	TF binding region
OR5D13	CpG island
OR5D15P	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR5L1	CpG island
OR5L2	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR5D16	CpG island
OR5D3P	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 313 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192044890	chr11:55478981-55478982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556373983	chr11:55479008-55479009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs9943539	chr11:55479017-55479018	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184993293	chr11:55479018-55479019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs369057004	chr11:55479069-55479070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553671299	chr11:55479070-55479071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370818541	chr11:55479079-55479080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571671328	chr11:55479121-55479122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542224028	chr11:55479152-55479153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560773881	chr11:55479158-55479159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546759570	chr11:55479171-55479172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs11230740	chr11:55479203-55479204	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190331415	chr11:55479213-55479214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368100168	chr11:55479241-55479242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs532833385	chr11:55479250-55479251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548082822	chr11:55479256-55479257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560105561	chr11:55479312-55479313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs540310532	chr11:55480317-55480318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs565566246	chr11:55480327-55480328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs529870098	chr11:55480339-55480340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs67966532	chr11:55482355-55482356	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555426551	chr11:55482404-55482405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548894733	chr11:55482441-55482442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs11821351	chr11:55482450-55482451	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7944439	chr11:55490377-55490378	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372033590	chr11:55490387-55490388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs118111107	chr11:55490414-55490415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs552578782	chr11:55490458-55490459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs140882714	chr11:55490476-55490477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7941092	chr11:55490488-55490489	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549614083	chr11:55490489-55490490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7935382	chr11:55490512-55490513	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140257775	chr11:55490951-55490952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs12792129	chr11:55490954-55490955	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529703131	chr11:55490966-55490967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs548253788	chr11:55490973-55490974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs72912398	chr11:55490979-55490980	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528444849	chr11:55491001-55491002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545173996	chr11:55491061-55491062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11605146	chr11:55491106-55491107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs11230783	chr11:55491107-55491108	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369674730	chr11:55491126-55491127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs187398563	chr11:55491131-55491132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs545407777	chr11:55491136-55491137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs563575281	chr11:55491738-55491739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552481858	chr11:55491758-55491759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79539816	chr11:55491785-55491786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77407736	chr11:55491788-55491789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564005580	chr11:55491803-55491804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184276980	chr11:55491805-55491806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
3	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
4	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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