Variant report

Variant	nsv553770
Chromosome Location	chr11:23801412-23865129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:23808741-23808892	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:23829094-23829349	A549	lung:	n/a	chr11:23829233-23829244
3	CEBPB	chr11:23820809-23821124	HepG2	liver:	n/a	chr11:23821104-23821117
4	CEBPB	chr11:23844303-23844514	HepG2	liver:	n/a	chr11:23844394-23844405
5	CEBPB	chr11:23829111-23829319	K562	blood:	n/a	chr11:23829233-23829244
6	CEBPB	chr11:23820772-23821109	A549	lung:	n/a	n/a
7	CEBPB	chr11:23844250-23844479	IMR90	lung:	n/a	chr11:23844394-23844405
8	CEBPB	chr11:23808790-23808947	HepG2	liver:	n/a	chr11:23808906-23808917
9	CEBPB	chr11:23820766-23821130	IMR90	lung:	n/a	chr11:23821104-23821117
10	CEBPB	chr11:23829075-23829384	HepG2	liver:	n/a	chr11:23829233-23829244
11	CEBPB	chr11:23829064-23829390	IMR90	lung:	n/a	chr11:23829233-23829244
12	CTCF	chr11:23855880-23856030	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr11:23855956-23856145	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr11:23855980-23856130	HA-sp	spinal cord:	n/a	n/a
15	CTCF	chr11:23855860-23856010	HVMF	connective:	n/a	n/a
16	CTCF	chr11:23855960-23856110	HPF	lung:	n/a	n/a
17	CTCF	chr11:23856012-23856107	ProgFib	skin:	n/a	n/a
18	CTCF	chr11:23855986-23856130	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr11:23855960-23856110	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr11:23855952-23856153	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:23855920-23856070	AG09309	skin:	n/a	n/a
22	CTCF	chr11:23855960-23856110	HMF	breast:	n/a	n/a
23	CTCF	chr11:23855968-23856123	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:23855960-23856110	HRE	kidney:	n/a	n/a
25	CTCF	chr11:23855880-23856030	HAc	cerebellar:	n/a	n/a
26	CTCF	chr11:23849360-23849510	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:23855940-23856090	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr11:23855960-23856110	AG10803	skin:	n/a	n/a
29	CTCF	chr11:23855980-23856130	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:23855926-23856203	IMR90	lung:	n/a	n/a
31	CTCF	chr11:23855940-23856090	NHEK	skin:	n/a	n/a
32	CTCF	chr11:23855960-23856110	Caco-2	colon:	n/a	n/a
33	CTCF	chr11:23855980-23856130	HMEC	breast:	n/a	n/a
34	CTCF	chr11:23855920-23856070	HCM	heart:	n/a	n/a
35	CTCF	chr11:23855989-23856128	Gliobla	brain:	n/a	n/a
36	CTCF	chr11:23855900-23856050	HFF	foreskin:	n/a	n/a
37	CTCF	chr11:23855940-23856090	HMEC	breast:	n/a	n/a
38	CTCF	chr11:23855960-23856110	HCFaa	heart:	n/a	n/a
39	CTCF	chr11:23855967-23856138	Fibrobl	skin:	n/a	n/a
40	CTCF	chr11:23855960-23856110	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr11:23855960-23856110	AG04449	skin:	n/a	n/a
42	CTCF	chr11:23855940-23856090	BJ	skin:	n/a	n/a
43	CTCF	chr11:23855920-23856070	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:23855936-23856164	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:23864781-23864851	Lung_OC	lung:	n/a	n/a
46	CTCF	chr11:23855996-23856120	Medullo	brain:	n/a	n/a
47	CTCF	chr11:23855960-23856110	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr11:23855940-23856090	HMF	breast:	n/a	n/a
49	CTCF	chr11:23856139-23856154	Fibrobl	skin:	n/a	n/a
50	CTCF	chr11:23855960-23856110	HCPEpiC	choroid plexus:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:23811425-23811475	PANC-1	pancreas:	n/a
2	chr11:23811425-23811475	HRPEpiC	eye:	n/a
3	chr11:23811425-23811475	T-47D	breast:	n/a
4	chr11:23811425-23811475	HepG2	liver:	n/a
5	chr11:23811425-23811475	AG04449	skin:	fetal
6	chr11:23811425-23811475	NB4	blood:	n/a
7	chr11:23811425-23811475	HEEpiC	esophagus:	n/a
8	chr11:23811425-23811475	U87	brain:	n/a
9	chr11:23811425-23811475	SK-N-MC	brain:	n/a
10	chr11:23811425-23811475	AG10803	skin:	n/a
11	chr11:23811425-23811475	HRE	kidney:	n/a
12	chr11:23811425-23811475	HRCEpiC	kidney:	n/a
13	chr11:23811425-23811475	BE2_C	brain:	n/a
14	chr11:23811425-23811475	A549	lung:	n/a
15	chr11:23811425-23811475	HCT-116	colon:	n/a
16	chr11:23811425-23811475	Caco-2	colon:	n/a
17	chr11:23811425-23811475	HNPCEpiC	eye:	n/a
18	chr11:23811425-23811475	RPTEC	kidney:	n/a
19	chr11:23811425-23811475	HCM	heart:	n/a
20	chr11:23811425-23811475	IMR90	lung:	fetal
21	chr11:23811425-23811475	HEK293	kidney:	embryo
22	chr11:23811425-23811475	HIPEpiC	eye:	n/a
23	chr11:23811425-23811475	AG09319	gingival:	n/a
24	chr11:23811425-23811475	H1-hESC	embryonic stem cell:	embryo
25	chr11:23811425-23811475	SAEC	small airway:	n/a
26	chr11:23811425-23811475	MCF-7	breast:	n/a
27	chr11:23811425-23811475	NT2-D1	testis:	n/a
28	chr11:23811425-23811475	ovcar-3	ovarian:	n/a
29	chr11:23811425-23811475	HL-60	blood:	n/a
30	chr11:23811425-23811475	GM06990	blood:	n/a
31	chr11:23811425-23811475	CMK	blood:	n/a
32	chr11:23811425-23811475	GM12878	blood:	n/a
33	chr11:23811425-23811475	NH-A	brain:	n/a
34	chr11:23811425-23811475	ProgFib	skin:	n/a
35	chr11:23811425-23811475	HAEpiC	amniotic membrane:	n/a
36	chr11:23811425-23811475	Hepatocyte	liver:	n/a
37	chr11:23811425-23811475	AG04450	lung:	fetal
38	chr11:23811425-23811475	AG09309	skin:	n/a
39	chr11:23811425-23811475	Jurkat	blood:	n/a
40	chr11:23811425-23811475	NHDF-neo	bronchial:	n/a
41	chr11:23811425-23811475	GM19239	blood:	n/a
42	chr11:23811425-23811475	LNCaP	prostate:	n/a
43	chr11:23811425-23811475	BJ	skin:	n/a
44	chr11:23811425-23811475	K562	blood:	n/a
45	chr11:23811425-23811475	PrEC	prostate:	n/a
46	chr11:23811425-23811475	HCF	heart:	n/a
47	chr11:23811425-23811475	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:23811425-23811475	NHBE	bronchial:	n/a
49	chr11:23811425-23811475	SKMC	muscle:	n/a
50	chr11:23811425-23811475	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:23822728..23824994-chr11:23830826..23833587,2	K562	blood:
2	chr11:23822728..23824994-chr11:23830826..23833587,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-17A1.2.1-5	chr11:23817463-23817487	NONHSAT018430
2	lnc-LUZP2-1	chr11:23816369-23816430	ENSG00000255193
3	lnc-RP11-17A1.2.1-2	chr11:23829736-23829778	XLOC_009395
4	lnc-RP11-17A1.2.1-5	chr11:23818256-23819005	NONHSAT018430
5	lnc-RP11-17A1.2.1-2	chr11:23826000-23826222	XLOC_009395
6	lnc-RP11-17A1.2.1-2	chr11:23826025-23826144	ENSG00000254861
7	lnc-LUZP2-1	chr11:23818254-23818516	ENSG00000255193
8	lnc-RP11-17A1.2.1-2	chr11:23802334-23802418	ENSG00000254861

No data

Variant related genes	Relation type
ENSG00000254861	TF binding region
ENSG00000254861	CpG island

Extended variants
information (count: 1252 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1252 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11027491	chr11:23801412-23801413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186501162	chr11:23801449-23801450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140021740	chr11:23801516-23801517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564433584	chr11:23801521-23801522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190446626	chr11:23801543-23801544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78260041	chr11:23801582-23801583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569425935	chr11:23801604-23801605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183720464	chr11:23801605-23801606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368830128	chr11:23801738-23801739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565585371	chr11:23801791-23801792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534601400	chr11:23801834-23801835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143878603	chr11:23801863-23801864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562622179	chr11:23801926-23801927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571520570	chr11:23801938-23801939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60192169	chr11:23801962-23801963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537264953	chr11:23801983-23801984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557159168	chr11:23801984-23801985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188544354	chr11:23802031-23802032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57320556	chr11:23802038-23802039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146791808	chr11:23802051-23802052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57869293	chr11:23802067-23802068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555818955	chr11:23802069-23802070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7125013	chr11:23802086-23802087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540977359	chr11:23802151-23802152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57783013	chr11:23802168-23802169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562073888	chr11:23802249-23802250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7109022	chr11:23802279-23802280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183125938	chr11:23802288-23802289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543689106	chr11:23802289-23802290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541529908	chr11:23802290-23802291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563576701	chr11:23802291-23802292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371138488	chr11:23802299-23802300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529481538	chr11:23802315-23802316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191343140	chr11:23802321-23802322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375688228	chr11:23802334-23802335	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs565723813	chr11:23802345-23802346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs528085082	chr11:23802352-23802353	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs548181926	chr11:23802354-23802355	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs11027492	chr11:23802391-23802392	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs371039937	chr11:23802393-23802394	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs551361384	chr11:23802417-23802418	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs571587131	chr11:23802420-23802421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527255761	chr11:23802445-23802446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537371016	chr11:23802462-23802463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184604312	chr11:23802479-23802480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78922535	chr11:23802514-23802515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189340064	chr11:23802663-23802664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144887139	chr11:23802703-23802704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139807677	chr11:23802704-23802705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34961983	chr11:23802705-23802706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23799200-23803200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:23799600-23802400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:23800400-23802000	Enhancers	NH-A	brain
4	chr11:23800600-23802600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:23801200-23811000	Weak transcription	HSMM	muscle
6	chr11:23803200-23803600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:23803600-23804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:23804600-23806800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:23805200-23806400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:23805800-23806200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:23806200-23811200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:23806400-23806600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:23806400-23807000	Enhancers	HepG2	liver
14	chr11:23806600-23806800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr11:23806800-23808200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:23806800-23808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:23807000-23808000	Weak transcription	HepG2	liver
18	chr11:23807000-23809000	Enhancers	Fetal Intestine Small	intestine
19	chr11:23807400-23808600	Enhancers	Fetal Lung	lung
20	chr11:23807800-23809400	Enhancers	Stomach Mucosa	stomach
21	chr11:23808000-23809400	Enhancers	Fetal Intestine Large	intestine
22	chr11:23808000-23809600	Enhancers	HepG2	liver
23	chr11:23808200-23809000	Enhancers	Gastric	stomach
24	chr11:23808200-23809000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:23808200-23809600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:23808800-23809000	Enhancers	Pancreas	Pancrea
27	chr11:23809000-23810600	Weak transcription	Fetal Intestine Small	intestine
28	chr11:23809000-23810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:23809400-23810600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:23809400-23810600	Weak transcription	Pancreas	Pancrea
31	chr11:23809400-23810600	Weak transcription	Stomach Mucosa	stomach
32	chr11:23809600-23810400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:23809600-23810600	Weak transcription	HepG2	liver
34	chr11:23810400-23812200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:23810600-23811200	Enhancers	Colonic Mucosa	Colon
36	chr11:23810600-23811400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:23810600-23811800	Enhancers	Pancreas	Pancrea
38	chr11:23810600-23811800	Enhancers	Dnd41	blood
39	chr11:23810600-23811800	Enhancers	HepG2	liver
40	chr11:23810600-23812000	Enhancers	Stomach Mucosa	stomach
41	chr11:23810600-23812200	Enhancers	Fetal Intestine Large	intestine
42	chr11:23810600-23812200	Enhancers	Fetal Intestine Small	intestine
43	chr11:23810600-23812200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:23810800-23811200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:23810800-23811400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:23810800-23811800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:23811000-23811800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:23811000-23811800	Enhancers	HSMM	muscle
49	chr11:23811000-23812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:23811000-23812200	Enhancers	NH-A	brain

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