Variant report

Variant	nsv1053286
Chromosome Location	chr11:55069566-55126589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55113743-55114014	HepG2	liver:	n/a	chr11:55113873-55113884
2	CEBPB	chr11:55113744-55114010	IMR90	lung:	n/a	chr11:55113873-55113884
3	CTCF	chr11:55125166-55125347	K562	blood:	n/a	n/a
4	CTCF	chr11:55125146-55125400	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:55125200-55125350	GM06990	blood:	n/a	n/a
6	CTCF	chr11:55125140-55125290	GM12873	blood:	n/a	n/a
7	CTCF	chr11:55125180-55125330	NB4	blood:	n/a	n/a
8	CTCF	chr11:55125160-55125310	HepG2	liver:	n/a	n/a
9	CTCF	chr11:55125120-55125270	GM12868	blood:	n/a	n/a
10	CTCF	chr11:55125072-55125378	K562	blood:	n/a	n/a
11	CTCF	chr11:55125120-55125270	K562	blood:	n/a	n/a
12	CTCF	chr11:55125100-55125250	GM12873	blood:	n/a	n/a
13	CTCF	chr11:55125065-55125413	K562	blood:	n/a	n/a
14	CTCF	chr11:55125160-55125310	GM12864	blood:	n/a	n/a
15	CTCF	chr11:55125140-55125290	NHEK	skin:	n/a	n/a
16	CTCF	chr11:55125151-55125361	MCF-7	breast:	n/a	n/a
17	CTCF	chr11:55124980-55125532	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:55125160-55125310	Caco-2	colon:	n/a	n/a
19	CTCF	chr11:55125200-55125350	GM12873	blood:	n/a	n/a
20	CTCF	chr11:55125121-55125385	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr11:55125165-55125305	HepG2	liver:	n/a	n/a
22	CTCF	chr11:55125257-55125280	GM13977	blood:	n/a	n/a
23	CTCF	chr11:55125120-55125270	GM12867	blood:	n/a	n/a
24	CTCF	chr11:55125186-55125270	GM19240	blood:	n/a	n/a
25	CTCF	chr11:55125120-55125270	GM12865	blood:	n/a	n/a
26	CTCF	chr11:55125120-55125270	GM12874	blood:	n/a	n/a
27	CTCF	chr11:55125040-55125059	GM13976	blood:	n/a	n/a
28	CTCF	chr11:55125133-55125357	Gliobla	brain:	n/a	n/a
29	CTCF	chr11:55125068-55125430	A549	lung:	n/a	n/a
30	CTCF	chr11:55125169-55125257	A549	lung:	n/a	n/a
31	CTCF	chr11:55125140-55125290	BE2_C	brain:	n/a	n/a
32	CTCF	chr11:55125101-55125454	T-47D	breast:	n/a	n/a
33	CTCF	chr11:55125100-55125250	GM12878	blood:	n/a	n/a
34	CTCF	chr11:55125140-55125290	GM12871	blood:	n/a	n/a
35	CTCF	chr11:55124919-55125610	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr11:55125140-55125290	GM12864	blood:	n/a	n/a
37	CTCF	chr11:55125100-55125250	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:55125162-55125313	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:55125175-55125313	GM20000	blood:	n/a	n/a
40	CTCF	chr11:55125100-55125250	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr11:55125183-55125254	Fibrobl	skin:	n/a	n/a
42	CTCF	chr11:55125132-55125369	HCT-116	colon:	n/a	n/a
43	CTCF	chr11:55125117-55125451	K562	blood:	n/a	n/a
44	CTCF	chr11:55125204-55125226	GM19238	blood:	n/a	n/a
45	CTCF	chr11:55125126-55125378	T-47D	breast:	n/a	n/a
46	CTCF	chr11:55125101-55125460	HCT-116	colon:	n/a	n/a
47	CTCF	chr11:55125173-55125273	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:55125220-55125370	A549	lung:	n/a	n/a
49	CTCF	chr11:55125180-55125330	BE2_C	brain:	n/a	n/a
50	CTCF	chr11:55125160-55125310	SAEC	small airway:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55110562-55110612	NH-A	brain:	n/a
2	chr11:55110562-55110612	PFSK-1	brain:	n/a
3	chr11:55109885-55109935	NHDF-neo	bronchial:	n/a
4	chr11:55110233-55110283	T-47D	breast:	n/a
5	chr11:55110233-55110283	GM12878	blood:	n/a
6	chr11:55109885-55109935	K562	blood:	n/a
7	chr11:55109885-55109935	Hela-S3	cervix:	n/a
8	chr11:55110562-55110612	HepG2	liver:	n/a
9	chr11:55109885-55109935	IMR90	lung:	fetal
10	chr11:55110233-55110283	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:55109885-55109935	BJ	skin:	n/a
12	chr11:55110233-55110283	Caco-2	colon:	n/a
13	chr11:55110562-55110612	Caco-2	colon:	n/a
14	chr11:55110233-55110283	RPTEC	kidney:	n/a
15	chr11:55111658-55111708	AG04450	lung:	fetal
16	chr11:55110562-55110612	PANC-1	pancreas:	n/a
17	chr11:55109885-55109935	RPTEC	kidney:	n/a
18	chr11:55111658-55111708	NH-A	brain:	n/a
19	chr11:55110233-55110283	MCF10A-Er-Src	breast:	n/a
20	chr11:55109885-55109935	AoSMC	blood vessel:	n/a
21	chr11:55110562-55110612	NHBE	bronchial:	n/a
22	chr11:55111658-55111708	HMEC	breast:	n/a
23	chr11:55111658-55111708	SKMC	muscle:	n/a
24	chr11:55109885-55109935	HNPCEpiC	eye:	n/a
25	chr11:55110562-55110612	ovcar-3	ovarian:	n/a
26	chr11:55110562-55110612	SK-N-MC	brain:	n/a
27	chr11:55110562-55110612	SKMC	muscle:	n/a
28	chr11:55110233-55110283	HEK293	kidney:	embryo
29	chr11:55111658-55111708	MCF-7	breast:	n/a
30	chr11:55110562-55110612	RPTEC	kidney:	n/a
31	chr11:55109885-55109935	AG09319	gingival:	n/a
32	chr11:55109885-55109935	ECC-1	luminal epithelium:	n/a
33	chr11:55110233-55110283	HMEC	breast:	n/a
34	chr11:55110562-55110612	T-47D	breast:	n/a
35	chr11:55111658-55111708	AG09319	gingival:	n/a
36	chr11:55111658-55111708	SK-N-MC	brain:	n/a
37	chr11:55110562-55110612	AG10803	skin:	n/a
38	chr11:55110233-55110283	ECC-1	luminal epithelium:	n/a
39	chr11:55110233-55110283	SK-N-SH	brain:	n/a
40	chr11:55109885-55109935	HCT-116	colon:	n/a
41	chr11:55111658-55111708	U87	brain:	n/a
42	chr11:55109885-55109935	LNCaP	prostate:	n/a
43	chr11:55111658-55111708	HNPCEpiC	eye:	n/a
44	chr11:55111658-55111708	NB4	blood:	n/a
45	chr11:55110233-55110283	PANC-1	pancreas:	n/a
46	chr11:55110562-55110612	NHDF-neo	bronchial:	n/a
47	chr11:55109885-55109935	GM12891	blood:	n/a
48	chr11:55109885-55109935	HL-60	blood:	n/a
49	chr11:55110233-55110283	GM12891	blood:	n/a
50	chr11:55109885-55109935	AG04450	lung:	fetal

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:
2	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-2	chr11:55072505-55072536	NONHSAT021358
2	lnc-OR4C11-2	chr11:55069766-55070437	NONHSAT021358
3	lnc-OR4C11-2	chr11:55071537-55071634	NONHSAT021358

No data

Variant related genes	Relation type
OR4A11P	TF binding region
TRIM51HP	TF binding region
ENSG00000254828	TF binding region
OR4A16	TF binding region
OR4A12P	TF binding region
OR4A11P	CpG island
TRIM51HP	CpG island
ENSG00000254828	CpG island
OR4A16	CpG island
OR4A12P	CpG island

Extended variants
information (count: 545 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550888739	chr11:55069769-55069770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs186864848	chr11:55069802-55069803	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539600850	chr11:55069841-55069842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs557996490	chr11:55069873-55069874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs61896024	chr11:55069880-55069881	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192436075	chr11:55069882-55069883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs145070618	chr11:55069899-55069900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs573696273	chr11:55069908-55069909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs184835781	chr11:55069945-55069946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs188930268	chr11:55069956-55069957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs376260028	chr11:55069961-55069962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs193132524	chr11:55069967-55069968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs545556681	chr11:55069997-55069998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs564042065	chr11:55069999-55070000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs528152651	chr11:55070001-55070002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs540235603	chr11:55070002-55070003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561711322	chr11:55070003-55070004	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185171229	chr11:55070020-55070021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs550633194	chr11:55070031-55070032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs149102597	chr11:55070044-55070045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs117808016	chr11:55070074-55070075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs551515591	chr11:55070091-55070092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs189681726	chr11:55070092-55070093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs566630609	chr11:55070096-55070097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs181248106	chr11:55070098-55070099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs534074857	chr11:55070101-55070102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs143189549	chr11:55070105-55070106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs151235859	chr11:55070123-55070124	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs537827828	chr11:55070130-55070131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs75160573	chr11:55070131-55070132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs569703209	chr11:55070166-55070167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183525296	chr11:55070172-55070173	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs545282222	chr11:55070184-55070185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs554293116	chr11:55070222-55070223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs539830461	chr11:55070269-55070270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs535419810	chr11:55070270-55070271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs572673369	chr11:55070283-55070284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs540367775	chr11:55070290-55070291	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs188061640	chr11:55070304-55070305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs34107555	chr11:55070313-55070314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs549944446	chr11:55070346-55070347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs544164802	chr11:55070354-55070355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs570128990	chr11:55070364-55070365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs376924104	chr11:55070380-55070381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs533210096	chr11:55070393-55070394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs551384527	chr11:55070394-55070395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs559957997	chr11:55070412-55070413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs543221236	chr11:55071537-55071538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs183917700	chr11:55071559-55071560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs532458734	chr11:55071568-55071569	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	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
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55079600-55081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:55110800-55112400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:55120800-55121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:55120800-55122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:55121200-55121600	Enhancers	Brain Hippocampus Middle	brain
7	chr11:55124200-55124400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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