Variant report

Variant	nsv897085
Chromosome Location	chr11:24233998-24305935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:24260498-24260902	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:24254599-24254935	MCF-7	breast:	n/a	n/a
3	CEBPB	chr11:24299076-24299370	IMR90	lung:	n/a	chr11:24299202-24299213
4	CEBPB	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24281388-24281661	A549	lung:	n/a	chr11:24281546-24281557 chr11:24281546-24281559
6	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
7	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
8	CEBPB	chr11:24299149-24299349	HepG2	liver:	n/a	chr11:24299202-24299213
9	CEBPB	chr11:24258173-24258539	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:24258158-24258513	A549	lung:	n/a	n/a
11	CEBPB	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
12	CEBPB	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
13	CEBPB	chr11:24249542-24249602	HepG2	liver:	n/a	chr11:24249555-24249566
14	CEBPB	chr11:24273857-24274081	H1-hESC	embryonic stem cell:	n/a	chr11:24273965-24273976 chr11:24273965-24273978
15	CEBPB	chr11:24254596-24254839	HepG2	liver:	n/a	n/a
16	CEBPB	chr11:24254614-24254909	IMR90	lung:	n/a	n/a
17	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
18	CTCF	chr11:24256848-24256923	HepG2	liver:	n/a	n/a
19	CTCF	chr11:24256867-24256958	ProgFib	skin:	n/a	n/a
20	CTCF	chr11:24256780-24256990	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:24256796-24256994	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:24256700-24256850	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr11:24256762-24257032	Gliobla	brain:	n/a	n/a
24	CTCF	chr11:24256820-24256970	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr11:24256800-24256950	Caco-2	colon:	n/a	n/a
26	CTCF	chr11:24302249-24302295	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:24256840-24256990	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr11:24256823-24256935	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr11:24256860-24257010	AG04449	skin:	n/a	n/a
30	CTCF	chr11:24256800-24256950	AG04450	lung:	n/a	n/a
31	CTCF	chr11:24256820-24256970	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:24256820-24256970	AG04449	skin:	n/a	n/a
33	CTCF	chr11:24256780-24256930	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr11:24294600-24294750	Caco-2	colon:	n/a	n/a
35	CTCF	chr11:24256820-24256970	HMEC	breast:	n/a	n/a
36	CTCF	chr11:24256760-24256910	HMEC	breast:	n/a	n/a
37	CTCF	chr11:24256800-24256950	RPTEC	kidney:	n/a	n/a
38	CTCF	chr11:24256692-24257064	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:24256855-24256918	Medullo	brain:	n/a	n/a
40	CTCF	chr11:24256780-24256930	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:24256720-24256870	HFF	foreskin:	n/a	n/a
42	CTCF	chr11:24256803-24256954	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr11:24256763-24256932	HepG2	liver:	n/a	n/a
44	CTCF	chr11:24256820-24256970	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr11:24256860-24257010	HRE	kidney:	n/a	n/a
46	CTCF	chr11:24256760-24256910	SAEC	small airway:	n/a	n/a
47	CTCF	chr11:24256770-24257013	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:24256900-24257050	WI-38	lung:	n/a	n/a
49	CTCF	chr11:24256840-24256990	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr11:24256780-24256930	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:24275293-24275343	BE2_C	brain:	n/a
2	chr11:24275293-24275343	PANC-1	pancreas:	n/a
3	chr11:24275293-24275343	HRPEpiC	eye:	n/a
4	chr11:24275293-24275343	NHDF-neo	bronchial:	n/a
5	chr11:24260751-24260801	GM06990	blood:	n/a
6	chr11:24275293-24275343	NHBE	bronchial:	n/a
7	chr11:24260751-24260801	Hepatocyte	liver:	n/a
8	chr11:24260751-24260801	NHBE	bronchial:	n/a
9	chr11:24275293-24275343	PrEC	prostate:	n/a
10	chr11:24260751-24260801	SKMC	muscle:	n/a
11	chr11:24260751-24260801	HCM	heart:	n/a
12	chr11:24260751-24260801	HEK293	kidney:	embryo
13	chr11:24260751-24260801	GM12878	blood:	n/a
14	chr11:24275293-24275343	NB4	blood:	n/a
15	chr11:24275293-24275343	HepG2	liver:	n/a
16	chr11:24275293-24275343	HEEpiC	esophagus:	n/a
17	chr11:24275293-24275343	HCF	heart:	n/a
18	chr11:24275293-24275343	IMR90	lung:	fetal
19	chr11:24275293-24275343	SKMC	muscle:	n/a
20	chr11:24260751-24260801	HRPEpiC	eye:	n/a
21	chr11:24275293-24275343	HRE	kidney:	n/a
22	chr11:24275293-24275343	HL-60	blood:	n/a
23	chr11:24260751-24260801	SK-N-MC	brain:	n/a
24	chr11:24275293-24275343	MCF-7	breast:	n/a
25	chr11:24275293-24275343	AG09309	skin:	n/a
26	chr11:24260751-24260801	K562	blood:	n/a
27	chr11:24260751-24260801	Caco-2	colon:	n/a
28	chr11:24275293-24275343	K562	blood:	n/a
29	chr11:24260751-24260801	A549	lung:	n/a
30	chr11:24275293-24275343	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:24275293-24275343	HUVEC	blood vessel:	n/a
32	chr11:24275293-24275343	GM12892	blood:	n/a
33	chr11:24260751-24260801	H1-hESC	embryonic stem cell:	embryo
34	chr11:24260751-24260801	SK-N-SH	brain:	n/a
35	chr11:24275293-24275343	HEK293	kidney:	embryo
36	chr11:24275293-24275343	Hela-S3	cervix:	n/a
37	chr11:24275293-24275343	HIPEpiC	eye:	n/a
38	chr11:24260751-24260801	NT2-D1	testis:	n/a
39	chr11:24275293-24275343	HCPEpiC	choroid plexus:	n/a
40	chr11:24275293-24275343	RPTEC	kidney:	n/a
41	chr11:24275293-24275343	MCF10A-Er-Src	breast:	n/a
42	chr11:24260751-24260801	NH-A	brain:	n/a
43	chr11:24260751-24260801	BE2_C	brain:	n/a
44	chr11:24275293-24275343	U87	brain:	n/a
45	chr11:24260751-24260801	AG09309	skin:	n/a
46	chr11:24275293-24275343	HMEC	breast:	n/a
47	chr11:24260751-24260801	GM12892	blood:	n/a
48	chr11:24275293-24275343	NH-A	brain:	n/a
49	chr11:24260751-24260801	MCF10A-Er-Src	breast:	n/a
50	chr11:24260751-24260801	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:24221833..24223887-chr11:24233684..24236438,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-17A1.2.1-3	chr11:24280982-24281108	ENSG00000254594
2	lnc-RP11-17A1.2.1-3	chr11:24281464-24281559	ENSG00000254594
3	lnc-RP11-17A1.2.1-3	chr11:24283627-24283751	ENSG00000254594
4	lnc-RP11-17A1.2.1-3	chr11:24280945-24281108	ENSG00000254594
5	lnc-RP11-17A1.2.1-3	chr11:24257023-24257051	ENSG00000254594
6	lnc-RP11-17A1.2.1-3	chr11:24270419-24270475	ENSG00000254594
7	lnc-RP11-17A1.2.1-3	chr11:24283627-24283764	ENSG00000254594
8	lnc-RP11-17A1.2.1-3	chr11:24281464-24281559	ENSG00000254594
9	lnc-RP11-17A1.2.1-3	chr11:24279738-24279857	ENSG00000254594

No data

Variant related genes	Relation type
ENSG00000254594	TF binding region
ENSG00000254594	CpG island

Extended variants
information (count: 1478 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1478 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377640319	chr11:24236272-24236273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370676333	chr11:24236292-24236293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186781612	chr11:24236294-24236295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190847831	chr11:24236295-24236296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6484029	chr11:24236300-24236301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145644658	chr11:24236316-24236317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549725819	chr11:24236318-24236319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74580386	chr11:24236319-24236320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79348532	chr11:24236320-24236321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs398055087	chr11:24236343-24236344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201809581	chr11:24236345-24236346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146236697	chr11:24236358-24236359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546007351	chr11:24236395-24236396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184230064	chr11:24236405-24236406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7942512	chr11:24236407-24236408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77699762	chr11:24236448-24236449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561834457	chr11:24236454-24236455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529393292	chr11:24236456-24236457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7120940	chr11:24236485-24236486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147454459	chr11:24236502-24236503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4598670	chr11:24236524-24236525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563821384	chr11:24236556-24236557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4382908	chr11:24236558-24236559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73438219	chr11:24236578-24236579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549487278	chr11:24236599-24236600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4382909	chr11:24236618-24236619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538064742	chr11:24236637-24236638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559410796	chr11:24236688-24236689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114805818	chr11:24236741-24236742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534190261	chr11:24236744-24236745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6484030	chr11:24236791-24236792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188177204	chr11:24236794-24236795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531364211	chr11:24236852-24236853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556713864	chr11:24236856-24236857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576137602	chr11:24236867-24236868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541703301	chr11:24236956-24236957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562005266	chr11:24236963-24236964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533515400	chr11:24236985-24236986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141880532	chr11:24236990-24236991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560692086	chr11:24248235-24248236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7119181	chr11:24248274-24248275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74405804	chr11:24248275-24248276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7941141	chr11:24248294-24248295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542240742	chr11:24248298-24248299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372693486	chr11:24248301-24248302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370817829	chr11:24248302-24248303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561951423	chr11:24248359-24248360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78619513	chr11:24248390-24248391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547578667	chr11:24248416-24248417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139528711	chr11:24248427-24248428	Enhancers	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24236200-24237000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:24248200-24248600	Enhancers	HepG2	liver
3	chr11:24248200-24249000	Enhancers	Stomach Mucosa	stomach
4	chr11:24248400-24249000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr11:24255600-24257000	Enhancers	Stomach Mucosa	stomach
6	chr11:24255800-24257000	Enhancers	Gastric	stomach
7	chr11:24256200-24256800	Enhancers	Pancreas	Pancrea
8	chr11:24256200-24257200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:24256400-24256600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:24256400-24257000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:24257200-24260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:24259800-24262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:24259800-24262800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:24260200-24261800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:24260400-24261400	Enhancers	Colon Smooth Muscle	Colon
16	chr11:24260600-24261200	Enhancers	Rectal Smooth Muscle	rectum
17	chr11:24260800-24261200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:24261000-24261400	Enhancers	Fetal Muscle Leg	muscle
19	chr11:24261800-24262000	Enhancers	Psoas Muscle	Psoas
20	chr11:24262000-24270000	Weak transcription	Psoas Muscle	Psoas
21	chr11:24266600-24266800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:24268400-24269200	Enhancers	Fetal Lung	lung
23	chr11:24268600-24271600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:24269200-24270200	Weak transcription	Fetal Lung	lung
25	chr11:24270200-24270400	Enhancers	Fetal Lung	lung
26	chr11:24270200-24270400	Enhancers	Psoas Muscle	Psoas
27	chr11:24270800-24271600	Enhancers	Dnd41	blood
28	chr11:24271600-24273000	Flanking Active TSS	Dnd41	blood
29	chr11:24271600-24274000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:24273000-24274600	Enhancers	Dnd41	blood
31	chr11:24273600-24275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:24274000-24274600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr11:24274600-24275000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:24274800-24275600	Enhancers	HUVEC	blood vessel
35	chr11:24275000-24275200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr11:24275200-24275400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:24275400-24288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:24288000-24288600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr11:24288200-24288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:24295800-24296200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links