Variant report

Variant	nsv555094
Chromosome Location	chr11:55707804-55729751
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	chr11:55710296-55710606	HepG2	liver:	n/a	n/a
2	CTCF	chr11:55710316-55710565	HCT-116	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
3	CTCF	chr11:55710640-55710790	HMEC	breast:	n/a	n/a
4	CTCF	chr11:55710340-55710490	HCT-116	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
5	CTCF	chr11:55710400-55710550	HPAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
6	CTCF	chr11:55710360-55710510	GM12878	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
7	CTCF	chr11:55710400-55710550	HL-60	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
8	CTCF	chr11:55716957-55717047	GM19238	blood:	n/a	n/a
9	CTCF	chr11:55710343-55710564	LNCaP	prostate:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
10	CTCF	chr11:55710333-55710524	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
11	CTCF	chr11:55710380-55710530	HUVEC	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
12	CTCF	chr11:55716918-55717061	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:55710213-55710569	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
14	CTCF	chr11:55716920-55717067	A549	lung:	n/a	n/a
15	CTCF	chr11:55710352-55710553	Hela-S3	cervix:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
16	CTCF	chr11:55710361-55710550	GM13977	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
17	CTCF	chr11:55716919-55717052	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:55716840-55716990	GM12875	blood:	n/a	n/a
19	CTCF	chr11:55710316-55710586	Medullo	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
20	CTCF	chr11:55710280-55710430	GM12869	blood:	n/a	n/a
21	CTCF	chr11:55710380-55710530	HCPEpiC	choroid plexus:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
22	CTCF	chr11:55712666-55712753	GM10248	blood:	n/a	n/a
23	CTCF	chr11:55710440-55710590	AG04449	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
24	CTCF	chr11:55710340-55710490	GM12878	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
25	CTCF	chr11:55710380-55710530	NHDF-neo	bronchial:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
26	CTCF	chr11:55710385-55710551	Kidney_OC	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
27	CTCF	chr11:55710380-55710530	HRE	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
28	CTCF	chr11:55710360-55710510	GM12872	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
29	CTCF	chr11:55710320-55710470	HEK293	kidney:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
30	CTCF	chr11:55710132-55711168	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
31	CTCF	chr11:55710320-55710470	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
32	CTCF	chr11:55716958-55717014	GM12892	blood:	n/a	n/a
33	CTCF	chr11:55710360-55710510	AG10803	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
34	CTCF	chr11:55710440-55710590	GM12874	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
35	CTCF	chr11:55710460-55710610	AG04450	lung:	n/a	n/a
36	CTCF	chr11:55710319-55710566	HepG2	liver:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
37	CTCF	chr11:55710320-55710470	AG09309	skin:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
38	CTCF	chr11:55710320-55710470	HMEC	breast:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
39	CTCF	chr11:55710380-55710530	HMEC	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
40	CTCF	chr11:55710380-55710530	BE2_C	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
41	CTCF	chr11:55710380-55710530	GM06990	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
42	CTCF	chr11:55710360-55710510	GM12875	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
43	CTCF	chr11:55710380-55710530	Caco-2	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
44	CTCF	chr11:55710300-55710550	HRPEpiC	eye:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
45	CTCF	chr11:55710283-55710585	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
46	CTCF	chr11:55710400-55710550	GM06990	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
47	CTCF	chr11:55710364-55710548	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
48	CTCF	chr11:55710354-55710543	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
49	CTCF	chr11:55710346-55710564	LNCaP	prostate:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
50	CTCF	chr11:55710440-55710590	AG09319	gingival:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55702690..55706471-chr11:55707075..55709513,3	MCF-7	breast:
2	chr11:55726290..55727933-chr11:55735253..55737882,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10AG1-1	chr11:55724692-55725106	NONHSAT021375

Variant related genes	Relation type
OR10AF1P	TF binding region
OR10AK1P	TF binding region
OR5I1	TF binding region
ENSG00000174970	chromatin interactions
ENSG00000167825	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4312084	chr11:55707804-55707805	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556308536	chr11:55707819-55707820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571287969	chr11:55707825-55707826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs17598017	chr11:55707892-55707893	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554112038	chr11:55707911-55707912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141445660	chr11:55707922-55707923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4631897	chr11:55707955-55707956	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538396177	chr11:55707997-55707998	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375851745	chr11:55708000-55708001	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576046426	chr11:55708010-55708011	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558221912	chr11:55708011-55708012	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543448563	chr11:55708015-55708016	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555760782	chr11:55708032-55708033	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532542602	chr11:55708153-55708154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369118651	chr11:55708156-55708157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138455755	chr11:55708161-55708162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114781871	chr11:55708199-55708200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61894199	chr11:55708221-55708222	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188556676	chr11:55708223-55708224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549317947	chr11:55708235-55708236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144025148	chr11:55708248-55708249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17598045	chr11:55708291-55708292	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193155855	chr11:55708336-55708337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571213436	chr11:55708354-55708355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538365967	chr11:55708369-55708370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543735035	chr11:55708377-55708378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536415554	chr11:55708407-55708408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10751003	chr11:55708439-55708440	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576359744	chr11:55708478-55708479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543700590	chr11:55708494-55708495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12292033	chr11:55708499-55708500	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528485128	chr11:55708508-55708509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577126461	chr11:55708544-55708545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11821077	chr11:55708641-55708642	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148614572	chr11:55708653-55708654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559769265	chr11:55708654-55708655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs55833816	chr11:55708678-55708679	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371751489	chr11:55708703-55708704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542878041	chr11:55708708-55708709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561041730	chr11:55708738-55708739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531677731	chr11:55708743-55708744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs17598094	chr11:55708815-55708816	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372423294	chr11:55708824-55708825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547141234	chr11:55708829-55708830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532106593	chr11:55708883-55708884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184577408	chr11:55708929-55708930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61894201	chr11:55709046-55709047	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373146648	chr11:55709058-55709059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77191262	chr11:55709069-55709070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189896784	chr11:55709089-55709090	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
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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55717000-55717400	Enhancers	Pancreas	Pancrea

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