Variant report

Variant	nsv897140
Chromosome Location	chr11:25905509-25991194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:25956447-25956549	K562	blood:	n/a	n/a
2	BRCA1	chr11:25980976-25981030	Hela-S3	cervix:	n/a	n/a
3	BRF2	chr11:25910229-25910919	Hela-S3	cervix:	n/a	n/a
4	CCNT2	chr11:25974710-25974927	K562	blood:	n/a	n/a
5	CEBPB	chr11:25988620-25988883	IMR90	lung:	n/a	chr11:25988717-25988728
6	CEBPB	chr11:25988637-25988843	HepG2	liver:	n/a	chr11:25988717-25988728
7	CEBPB	chr11:25955107-25955264	HepG2	liver:	n/a	chr11:25955243-25955256
8	CEBPB	chr11:25907889-25908089	HepG2	liver:	n/a	chr11:25907947-25907958 chr11:25908041-25908054
9	CEBPB	chr11:25972705-25972918	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:25990730-25990833	HepG2	liver:	n/a	chr11:25990810-25990823 chr11:25990811-25990822
11	CEBPB	chr11:25982383-25982722	IMR90	lung:	n/a	chr11:25982411-25982424
12	CTCF	chr11:25951280-25951430	NHLF	lung:	n/a	n/a
13	CTCF	chr11:25983209-25983357	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:25983260-25983410	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr11:25983140-25983290	NHEK	skin:	n/a	n/a
16	CTCF	chr11:25983198-25983379	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr11:25983160-25983310	Caco-2	colon:	n/a	n/a
18	CTCF	chr11:25983200-25983350	AG04449	skin:	n/a	n/a
19	CTCF	chr11:25983195-25983391	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:25983160-25983310	AG09309	skin:	n/a	n/a
21	CTCF	chr11:25983140-25983410	HVMF	connective:	n/a	n/a
22	CTCF	chr11:25983140-25983290	HMF	breast:	n/a	n/a
23	CTCF	chr11:25966460-25966610	GM12867	blood:	n/a	n/a
24	CTCF	chr11:25983160-25983310	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr11:25983160-25983310	HPF	lung:	n/a	n/a
26	CTCF	chr11:25983215-25983340	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr11:25957140-25957290	RPTEC	kidney:	n/a	chr11:25957269-25957290
28	CTCF	chr11:25983220-25983370	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr11:25943233-25943274	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr11:25983200-25983350	HPF	lung:	n/a	n/a
31	CTCF	chr11:25983240-25983390	Caco-2	colon:	n/a	n/a
32	CTCF	chr11:25983220-25983370	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr11:25983240-25983390	AG09319	gingival:	n/a	n/a
34	CTCF	chr11:25983240-25983390	HCFaa	heart:	n/a	n/a
35	CTCF	chr11:25983240-25983390	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr11:25983208-25983362	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:25957120-25957270	RPTEC	kidney:	n/a	n/a
38	CTCF	chr11:25983200-25983350	BE2_C	brain:	n/a	n/a
39	CTCF	chr11:25983180-25983330	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr11:25983180-25983330	HCM	heart:	n/a	n/a
41	CTCF	chr11:25983200-25983350	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr11:25983235-25983350	Gliobla	brain:	n/a	n/a
43	CTCF	chr11:25983190-25983407	Medullo	brain:	n/a	n/a
44	CTCF	chr11:25983108-25983675	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr11:25983237-25983355	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr11:25983220-25983370	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr11:25983180-25983330	HRE	kidney:	n/a	n/a
48	CTCF	chr11:25983207-25983346	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr11:25983240-25983390	RPTEC	kidney:	n/a	n/a
50	CTCF	chr11:25983180-25983330	HEEpiC	esophagus:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:25961072-25961122	AG10803	skin:	n/a
2	chr11:25961072-25961122	AG10803	skin:	n/a
3	chr11:25961072-25961122	SAEC	small airway:	n/a
4	chr11:25961072-25961122	HL-60	blood:	n/a
5	chr11:25961072-25961122	U87	brain:	n/a
6	chr11:25961072-25961122	T-47D	breast:	n/a
7	chr11:25961072-25961122	BE2_C	brain:	n/a
8	chr11:25961072-25961122	HCM	heart:	n/a
9	chr11:25961072-25961122	GM12878	blood:	n/a
10	chr11:25961072-25961122	HCPEpiC	choroid plexus:	n/a
11	chr11:25961072-25961122	HRE	kidney:	n/a
12	chr11:25961072-25961122	SKMC	muscle:	n/a
13	chr11:25961072-25961122	GM06990	blood:	n/a
14	chr11:25961072-25961122	ovcar-3	ovarian:	n/a
15	chr11:25961072-25961122	HRCEpiC	kidney:	n/a
16	chr11:25961072-25961122	GM19239	blood:	n/a
17	chr11:25961072-25961122	PANC-1	pancreas:	n/a
18	chr11:25961072-25961122	AG09319	gingival:	n/a
19	chr11:25961072-25961122	ProgFib	skin:	n/a
20	chr11:25961072-25961122	Hepatocyte	liver:	n/a
21	chr11:25961072-25961122	Caco-2	colon:	n/a
22	chr11:25961072-25961122	NT2-D1	testis:	n/a
23	chr11:25961072-25961122	HRPEpiC	eye:	n/a
24	chr11:25961072-25961122	A549	lung:	n/a
25	chr11:25961072-25961122	NH-A	brain:	n/a
26	chr11:25961072-25961122	HMEC	breast:	n/a
27	chr11:25961072-25961122	PFSK-1	brain:	n/a
28	chr11:25961072-25961122	MCF-7	breast:	n/a
29	chr11:25961072-25961122	NHBE	bronchial:	n/a
30	chr11:25961072-25961122	PrEC	prostate:	n/a
31	chr11:25961072-25961122	BJ	skin:	n/a
32	chr11:25961072-25961122	IMR90	lung:	fetal
33	chr11:25961072-25961122	Jurkat	blood:	n/a
34	chr11:25961072-25961122	GM12892	blood:	n/a
35	chr11:25961072-25961122	ECC-1	luminal epithelium:	n/a
36	chr11:25961072-25961122	AoSMC	blood vessel:	n/a
37	chr11:25961072-25961122	MCF10A-Er-Src	breast:	n/a
38	chr11:25961072-25961122	NB4	blood:	n/a
39	chr11:25961072-25961122	H1-hESC	embryonic stem cell:	embryo
40	chr11:25961072-25961122	HEEpiC	esophagus:	n/a
41	chr11:25961072-25961122	AG09309	skin:	n/a
42	chr11:25961072-25961122	NHDF-neo	bronchial:	n/a
43	chr11:25961072-25961122	SK-N-MC	brain:	n/a
44	chr11:25961072-25961122	SK-N-SH_RA	brain:	n/a
45	chr11:25961072-25961122	HIPEpiC	eye:	n/a
46	chr11:25961072-25961122	K562	blood:	n/a
47	chr11:25961072-25961122	HCT-116	colon:	n/a
48	chr11:25961072-25961122	HEK293	kidney:	embryo
49	chr11:25961072-25961122	HepG2	liver:	n/a
50	chr11:25961072-25961122	AG04449	skin:	fetal

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANO3-2	chr11:25947826-25948596	NONHSAT018453
2	lnc-ANO3-2	chr11:25945735-25945879	ENSG00000254754
3	lnc-ANO3-2	chr11:25945687-25946841	NONHSAT018453
4	lnc-ANO3-2	chr11:25948153-25948355	ENSG00000254754

No data

Variant related genes	Relation type
ENSG00000254754	TF binding region
ENSG00000254754	CpG island

Extended variants
information (count: 2180 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2180 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574164117	chr11:25907433-25907434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541625193	chr11:25907464-25907465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556835275	chr11:25907465-25907466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577689607	chr11:25907484-25907485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575385312	chr11:25907522-25907523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545824950	chr11:25907526-25907527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544686225	chr11:25907535-25907536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564383486	chr11:25907538-25907539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528529284	chr11:25907555-25907556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143677557	chr11:25907623-25907624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114365938	chr11:25907653-25907654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12417638	chr11:25907667-25907668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs118128542	chr11:25907692-25907693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569392634	chr11:25907709-25907710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190660028	chr11:25907776-25907777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182400335	chr11:25907799-25907800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186091154	chr11:25907822-25907823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111719531	chr11:25907854-25907855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200628459	chr11:25907883-25907884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377637524	chr11:25907927-25907928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373772994	chr11:25907945-25907946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546139647	chr11:25907946-25907947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567821790	chr11:25907974-25907975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535212186	chr11:25907976-25907977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115012356	chr11:25907991-25907992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35652853	chr11:25908026-25908027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138210824	chr11:25908028-25908029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190862326	chr11:25908053-25908054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557776979	chr11:25908067-25908068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573128272	chr11:25908076-25908077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1901415	chr11:25908087-25908088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs571791229	chr11:25908096-25908097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562027404	chr11:25908098-25908099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574066848	chr11:25908110-25908111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71447439	chr11:25908112-25908113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566969253	chr11:25908114-25908115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183059500	chr11:25908156-25908157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562995032	chr11:25908181-25908182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533398276	chr11:25908185-25908186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184442809	chr11:25916204-25916205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545169321	chr11:25916215-25916216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564180479	chr11:25916220-25916221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12223678	chr11:25916225-25916226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12223680	chr11:25916244-25916245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146977943	chr11:25916276-25916277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7952716	chr11:25916294-25916295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531545481	chr11:25916300-25916301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113714574	chr11:25916309-25916310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549644944	chr11:25916330-25916331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377215381	chr11:25916347-25916348	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25907400-25908000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:25907400-25908000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:25907600-25908000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr11:25907600-25908000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:25907800-25908200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:25916200-25916600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:25916400-25916800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:25918600-25919000	Enhancers	Fetal Kidney	kidney
9	chr11:25920800-25921600	Enhancers	Hela-S3	cervix
10	chr11:25924400-25924800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:25930200-25932000	Enhancers	Fetal Lung	lung
12	chr11:25931800-25932200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:25932000-25933800	Weak transcription	Fetal Lung	lung
14	chr11:25948000-25949200	Enhancers	Fetal Stomach	stomach
15	chr11:25948200-25948600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:25948200-25950400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:25948400-25949200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:25948400-25949800	Enhancers	Colon Smooth Muscle	Colon
19	chr11:25948400-25950400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:25948400-25951000	Enhancers	Fetal Lung	lung
21	chr11:25948600-25949000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:25948600-25949400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:25948600-25949400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:25948600-25949800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:25949000-25949400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:25949000-25949600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:25949200-25949400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:25949200-25949800	Enhancers	Fetal Kidney	kidney
29	chr11:25949200-25950200	Weak transcription	Fetal Stomach	stomach
30	chr11:25949400-25949600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr11:25949400-25951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:25949600-25951200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:25950400-25950600	Enhancers	Fetal Stomach	stomach
34	chr11:25950800-25955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:25951000-25959000	Weak transcription	Fetal Lung	lung
36	chr11:25951200-25951800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:25951400-25951800	Enhancers	Fetal Muscle Leg	muscle
38	chr11:25951600-25952000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:25955200-25955400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr11:25958800-25960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:25959000-25959400	Enhancers	Fetal Lung	lung
42	chr11:25960000-25960200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:25960000-25961000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr11:25960200-25960800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:25960200-25961200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:25960400-25961400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:25960600-25962800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:25960800-25961000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:25960800-25961200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:25960800-25961600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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