Variant report

Variant	nsv983020
Chromosome Location	chr11:55028379-55050346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:55050184-55050482	GM12878	blood:	n/a	chr11:55050282-55050292
2	BATF	chr11:55050155-55050460	GM12878	blood:	n/a	chr11:55050282-55050292
3	CTCF	chr11:55044400-55044456	GM13976	blood:	n/a	n/a
4	CTCF	chr11:55032411-55032485	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chr11:55045286-55045346	GM10266	blood:	n/a	n/a
6	CTCF	chr11:55043807-55043842	GM10248	blood:	n/a	n/a
7	CTCF	chr11:55037779-55037846	GM10248	blood:	n/a	n/a
8	CTCF	chr11:55036086-55036167	GM20000	blood:	n/a	n/a
9	CTCF	chr11:55044414-55044450	GM20000	blood:	n/a	n/a
10	CTCF	chr11:55040204-55040287	GM13977	blood:	n/a	n/a
11	CTCF	chr11:55029281-55029400	LNCaP	prostate:	n/a	n/a
12	CTCF	chr11:55043318-55043393	Kidney_OC	kidney:	n/a	n/a
13	EBF1	chr11:55050158-55050491	GM12878	blood:	n/a	chr11:55050256-55050266
14	EBF1	chr11:55050337-55050649	GM12878	blood:	n/a	chr11:55050497-55050508 chr11:55050499-55050508 chr11:55050498-55050508 chr11:55050499-55050508 chr11:55050497-55050510
15	EBF1	chr11:55050152-55050414	GM12878	blood:	n/a	chr11:55050256-55050266
16	PBX3	chr11:55045101-55045405	GM12878	blood:	n/a	n/a
17	PBX3	chr11:55045500-55045753	GM12878	blood:	n/a	n/a
18	PBX3	chr11:55044631-55044815	GM12878	blood:	n/a	n/a
19	PBX3	chr11:55044271-55044396	GM12878	blood:	n/a	n/a
20	PBX3	chr11:55044871-55045077	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:55029134-55029289	ProgFib	skin:	n/a	n/a
22	POLR2A	chr11:55046999-55047110	Gliobla	brain:	n/a	n/a
23	TCF12	chr11:55050198-55050364	GM12878	blood:	n/a	chr11:55050201-55050211 chr11:55050326-55050333
24	TCF3	chr11:55045523-55045889	GM12878	blood:	n/a	n/a
25	TCF3	chr11:55050139-55050445	GM12878	blood:	n/a	chr11:55050322-55050338
26	TCF3	chr11:55044539-55044843	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55041873-55041923	GM19239	blood:	n/a
2	chr11:55041873-55041923	GM19239	blood:	n/a
3	chr11:55044220-55044270	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:55029786-55029836	AG04449	skin:	fetal
5	chr11:55044082-55044132	NT2-D1	testis:	n/a
6	chr11:55044220-55044270	AG09309	skin:	n/a
7	chr11:55044220-55044270	HRCEpiC	kidney:	n/a
8	chr11:55044220-55044270	NT2-D1	testis:	n/a
9	chr11:55044082-55044132	MCF-7	breast:	n/a
10	chr11:55044082-55044132	SAEC	small airway:	n/a
11	chr11:55044082-55044132	HRPEpiC	eye:	n/a
12	chr11:55044082-55044132	HRCEpiC	kidney:	n/a
13	chr11:55044145-55044195	AG09319	gingival:	n/a
14	chr11:55041873-55041923	SK-N-MC	brain:	n/a
15	chr11:55044145-55044195	BJ	skin:	n/a
16	chr11:55029786-55029836	AG09309	skin:	n/a
17	chr11:55029786-55029836	NT2-D1	testis:	n/a
18	chr11:55029786-55029836	ovcar-3	ovarian:	n/a
19	chr11:55041873-55041923	RPTEC	kidney:	n/a
20	chr11:55044145-55044195	AG10803	skin:	n/a
21	chr11:55044145-55044195	HCPEpiC	choroid plexus:	n/a
22	chr11:55029786-55029836	H1-hESC	embryonic stem cell:	embryo
23	chr11:55044082-55044132	U87	brain:	n/a
24	chr11:55044220-55044270	HepG2	liver:	n/a
25	chr11:55029786-55029836	Hela-S3	cervix:	n/a
26	chr11:55044145-55044195	HEEpiC	esophagus:	n/a
27	chr11:55044082-55044132	HCPEpiC	choroid plexus:	n/a
28	chr11:55041873-55041923	HEK293	kidney:	embryo
29	chr11:55041873-55041923	HCM	heart:	n/a
30	chr11:55029786-55029836	GM12892	blood:	n/a
31	chr11:55044145-55044195	AG04450	lung:	fetal
32	chr11:55044082-55044132	AoSMC	blood vessel:	n/a
33	chr11:55044145-55044195	HCF	heart:	n/a
34	chr11:55044145-55044195	HMEC	breast:	n/a
35	chr11:55041873-55041923	BE2_C	brain:	n/a
36	chr11:55044220-55044270	GM12878	blood:	n/a
37	chr11:55041873-55041923	AG04450	lung:	fetal
38	chr11:55044220-55044270	AG04450	lung:	fetal
39	chr11:55041873-55041923	NHBE	bronchial:	n/a
40	chr11:55029786-55029836	MCF10A-Er-Src	breast:	n/a
41	chr11:55044220-55044270	HMEC	breast:	n/a
42	chr11:55029786-55029836	SKMC	muscle:	n/a
43	chr11:55044145-55044195	HRCEpiC	kidney:	n/a
44	chr11:55041873-55041923	HNPCEpiC	eye:	n/a
45	chr11:55041873-55041923	AoSMC	blood vessel:	n/a
46	chr11:55044145-55044195	SK-N-SH	brain:	n/a
47	chr11:55044220-55044270	HRPEpiC	eye:	n/a
48	chr11:55029786-55029836	HCT-116	colon:	n/a
49	chr11:55044145-55044195	AG04449	skin:	fetal
50	chr11:55044145-55044195	MCF-7	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-4	chr11:55047367-55047617	NONHSAT021353
2	lnc-OR4C11-4	chr11:55046923-55047254	NONHSAT021353
3	lnc-TRIM48-2	chr11:55049978-55050453	NONHSAT021355
4	lnc-OR4A16-3	chr11:55034884-55035112	NONHSAT021352
5	lnc-TRIM48-1	chr11:55047425-55047765	NONHSAT021354

No data

Variant related genes	Relation type
ENSG00000254696	TF binding region
ENSG00000255543	TF binding region
TRIM48	TF binding region
ENSG00000255110	TF binding region
ENSG00000254696	CpG island
ENSG00000255543	CpG island
TRIM48	CpG island
ENSG00000255110	CpG island

Extended variants
information (count: 549 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:549 , 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	rs370743327	chr11:55028379-55028380	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs193008125	chr11:55028382-55028383	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551549527	chr11:55028402-55028403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566988714	chr11:55028415-55028416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183618104	chr11:55028420-55028421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3851113	chr11:55028423-55028424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188331454	chr11:55028482-55028483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150975910	chr11:55028520-55028521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556896112	chr11:55028523-55028524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181826308	chr11:55028546-55028547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72918566	chr11:55028548-55028549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11228896	chr11:55028549-55028550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376271117	chr11:55028571-55028572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555793828	chr11:55028583-55028584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184987215	chr11:55028605-55028606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190736767	chr11:55028669-55028670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554986306	chr11:55028688-55028689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140519643	chr11:55028728-55028729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544055378	chr11:55028737-55028738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181669271	chr11:55028743-55028744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541444753	chr11:55028768-55028769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61898414	chr11:55028792-55028793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545215478	chr11:55028816-55028817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191162403	chr11:55028829-55028830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181209051	chr11:55028832-55028833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184916377	chr11:55028839-55028840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189773750	chr11:55028848-55028849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531757362	chr11:55028850-55028851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182292670	chr11:55028873-55028874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543641308	chr11:55028879-55028880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571944105	chr11:55028882-55028883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372693590	chr11:55028918-55028919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538838489	chr11:55028936-55028937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201303305	chr11:55028977-55028978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202152865	chr11:55028978-55028979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398097546	chr11:55028987-55028988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187704328	chr11:55028989-55028990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3853881	chr11:55029016-55029017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111714789	chr11:55029048-55029049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548961779	chr11:55029063-55029064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533845390	chr11:55029074-55029075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35514196	chr11:55029076-55029077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559708653	chr11:55029109-55029110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555048146	chr11:55029130-55029131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573274365	chr11:55029138-55029139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs192473836	chr11:55029170-55029171	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs34074212	chr11:55029180-55029181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs369446831	chr11:55029181-55029182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11823321	chr11:55029196-55029197	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544865531	chr11:55029217-55029218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55026600-55030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:55027200-55028400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:55028200-55028400	Active TSS	Fetal Heart	heart
4	chr11:55030400-55031600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:55049200-55050000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:55049400-55050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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