Variant report

Variant	nsv555091
Chromosome Location	chr11:55706373-55728281
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	chr11:55710400-55710550	HepG2	liver:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
3	CTCF	chr11:55710320-55710470	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
4	CTCF	chr11:55710333-55710524	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
5	CTCF	chr11:55710360-55710510	HRE	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
6	CTCF	chr11:55710360-55710510	Hela-S3	cervix:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
7	CTCF	chr11:55710385-55710551	Kidney_OC	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
8	CTCF	chr11:55710280-55710430	HCT-116	colon:	n/a	n/a
9	CTCF	chr11:55710361-55710550	GM13977	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
10	CTCF	chr11:55716905-55717105	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:55710300-55710450	BE2_C	brain:	n/a	n/a
12	CTCF	chr11:55710363-55710529	Spleen_OC	spleen:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
13	CTCF	chr11:55710320-55710470	HVMF	connective:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
14	CTCF	chr11:55710360-55710510	AoAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
15	CTCF	chr11:55710213-55710569	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
16	CTCF	chr11:55716916-55717057	MCF-7	breast:	n/a	n/a
17	CTCF	chr11:55710640-55710790	HMEC	breast:	n/a	n/a
18	CTCF	chr11:55710377-55710519	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
19	CTCF	chr11:55710400-55710550	GM06990	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
20	CTCF	chr11:55710343-55710569	GM12878	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
21	CTCF	chr11:55710360-55710510	HCPEpiC	choroid plexus:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
22	CTCF	chr11:55710400-55710550	Caco-2	colon:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
23	CTCF	chr11:55710360-55710510	AG10803	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
24	CTCF	chr11:55710340-55710550	GM10266	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
25	CTCF	chr11:55710000-55710150	HMF	breast:	n/a	n/a
26	CTCF	chr11:55710380-55710530	BE2_C	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
27	CTCF	chr11:55710320-55710470	HRPEpiC	eye:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
28	CTCF	chr11:55710440-55710590	AG04449	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
29	CTCF	chr11:55710280-55710430	GM12869	blood:	n/a	n/a
30	CTCF	chr11:55710360-55710510	NHEK	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
31	CTCF	chr11:55710320-55710470	HMEC	breast:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
32	CTCF	chr11:55710360-55710510	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
33	CTCF	chr11:55710352-55710553	Hela-S3	cervix:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
34	CTCF	chr11:55710420-55710570	Hela-S3	cervix:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
35	CTCF	chr11:55710360-55710510	SK-N-SH_RA	brain:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
36	CTCF	chr11:55710360-55710510	AG09309	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
37	CTCF	chr11:55710380-55710530	HRE	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
38	CTCF	chr11:55710353-55710571	Pancreas_OC	pancreas:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
39	CTCF	chr11:55710400-55710550	HPAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
40	CTCF	chr11:55710271-55710643	IMR90	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
41	CTCF	chr11:55710320-55710470	HFF	foreskin:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
42	CTCF	chr11:55716957-55717047	GM19238	blood:	n/a	n/a
43	CTCF	chr11:55710340-55710490	HEK293	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
44	CTCF	chr11:55710340-55710490	GM12868	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
45	CTCF	chr11:55710380-55710530	GM06990	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
46	CTCF	chr11:55710366-55710547	GM10248	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
47	CTCF	chr11:55710400-55710550	NHEK	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
48	CTCF	chr11:55710380-55710530	HMF	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
49	CTCF	chr11:55710440-55710590	GM12865	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
50	CTCF	chr11:55710380-55710530	HCPEpiC	choroid plexus:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469

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

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

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

Extended variants
information (count: 213 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146527819	chr11:55707151-55707152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573668452	chr11:55707157-55707158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149135290	chr11:55707159-55707160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10501341	chr11:55707222-55707223	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61894198	chr11:55707232-55707233	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143260248	chr11:55707243-55707244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560716429	chr11:55707274-55707275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187809455	chr11:55707329-55707330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17149079	chr11:55707394-55707395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544297204	chr11:55707415-55707416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77189125	chr11:55707416-55707417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs80343040	chr11:55707447-55707448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531553979	chr11:55707472-55707473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551016598	chr11:55707566-55707567	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543533778	chr11:55707633-55707634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565007913	chr11:55707664-55707665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532625978	chr11:55707676-55707677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192621955	chr11:55707684-55707685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566653833	chr11:55707696-55707697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527627462	chr11:55707710-55707711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183000775	chr11:55707716-55707717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12290347	chr11:55707799-55707800	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4312084	chr11:55707804-55707805	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556308536	chr11:55707819-55707820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571287969	chr11:55707825-55707826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs17598017	chr11:55707892-55707893	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554112038	chr11:55707911-55707912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141445660	chr11:55707922-55707923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4631897	chr11:55707955-55707956	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538396177	chr11:55707997-55707998	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375851745	chr11:55708000-55708001	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs576046426	chr11:55708010-55708011	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558221912	chr11:55708011-55708012	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543448563	chr11:55708015-55708016	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555760782	chr11:55708032-55708033	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532542602	chr11:55708153-55708154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369118651	chr11:55708156-55708157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138455755	chr11:55708161-55708162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114781871	chr11:55708199-55708200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61894199	chr11:55708221-55708222	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188556676	chr11:55708223-55708224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549317947	chr11:55708235-55708236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144025148	chr11:55708248-55708249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs17598045	chr11:55708291-55708292	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193155855	chr11:55708336-55708337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571213436	chr11:55708354-55708355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538365967	chr11:55708369-55708370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543735035	chr11:55708377-55708378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536415554	chr11:55708407-55708408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10751003	chr11:55708439-55708440	Inactive region	Chromatin interactive 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
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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