Variant report

Variant	nsv962489
Chromosome Location	chr18:11920674-11929409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:190)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:190 , 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	chr18:11925142-11925504	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:11925618-11926210	K562	blood:	n/a	n/a
3	ATF1	chr18:11923504-11923703	K562	blood:	n/a	n/a
4	ATF1	chr18:11925758-11926103	K562	blood:	n/a	n/a
5	ATF2	chr18:11921705-11922227	GM12878	blood:	n/a	n/a
6	ATF2	chr18:11921722-11922209	GM12878	blood:	n/a	n/a
7	BATF	chr18:11921744-11922225	GM12878	blood:	n/a	n/a
8	BATF	chr18:11921806-11922227	GM12878	blood:	n/a	n/a
9	BCL3	chr18:11923291-11923550	GM12878	blood:	n/a	n/a
10	BHLHE40	chr18:11927384-11927405	K562	blood:	n/a	n/a
11	BHLHE40	chr18:11925071-11925380	HepG2	liver:	n/a	n/a
12	BHLHE40	chr18:11925753-11926157	K562	blood:	n/a	n/a
13	BHLHE40	chr18:11926550-11926648	K562	blood:	n/a	n/a
14	CBX3	chr18:11925737-11926048	K562	blood:	n/a	n/a
15	CCNT2	chr18:11923566-11923769	K562	blood:	n/a	n/a
16	CCNT2	chr18:11925742-11926189	K562	blood:	n/a	n/a
17	CEBPB	chr18:11925139-11925444	IMR90	lung:	n/a	n/a
18	CEBPB	chr18:11925116-11925503	HepG2	liver:	n/a	n/a
19	CEBPB	chr18:11925083-11925476	HepG2	liver:	n/a	n/a
20	CEBPB	chr18:11925146-11925443	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr18:11925785-11926082	K562	blood:	n/a	n/a
22	CEBPB	chr18:11925150-11925451	K562	blood:	n/a	n/a
23	CEBPB	chr18:11925203-11925416	MCF-7	breast:	n/a	n/a
24	CEBPB	chr18:11925209-11925409	A549	lung:	n/a	n/a
25	CEBPB	chr18:11923836-11924043	K562	blood:	n/a	n/a
26	CEBPB	chr18:11925205-11925380	HepG2	liver:	n/a	n/a
27	CEBPD	chr18:11925666-11926226	K562	blood:	n/a	n/a
28	CEBPD	chr18:11925780-11926256	K562	blood:	n/a	n/a
29	CUX1	chr18:11923531-11923819	K562	blood:	n/a	n/a
30	CUX1	chr18:11925760-11926149	K562	blood:	n/a	n/a
31	E2F4	chr18:11925124-11925427	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr18:11921829-11922057	GM12878	blood:	n/a	n/a
33	ELK1	chr18:11925812-11925968	K562	blood:	n/a	n/a
34	EP300	chr18:11925691-11926222	HepG2	liver:	n/a	n/a
35	EP300	chr18:11929350-11929504	K562	blood:	n/a	chr18:11929384-11929393 chr18:11929469-11929483
36	EP300	chr18:11923389-11923785	K562	blood:	n/a	n/a
37	EP300	chr18:11925909-11926104	HepG2	liver:	n/a	n/a
38	EP300	chr18:11925837-11926056	K562	blood:	n/a	n/a
39	EP300	chr18:11925116-11925403	HepG2	liver:	n/a	n/a
40	EP300	chr18:11925182-11925384	HepG2	liver:	n/a	n/a
41	EP300	chr18:11925705-11926187	K562	blood:	n/a	n/a
42	ETS1	chr18:11925710-11926090	GM12878	blood:	n/a	n/a
43	FOS	chr18:11927193-11927470	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr18:11925098-11925492	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr18:11925081-11925492	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr18:11927190-11927522	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr18:11925147-11925447	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr18:11927249-11927480	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr18:11929349-11929420	MCF10A-Er-Src	breast:	n/a	chr18:11929383-11929393 chr18:11929383-11929393 chr18:11929383-11929393 chr18:11929383-11929392 chr18:11929383-11929393
50	FOS	chr18:11925046-11925499	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:11925754..11927617-chr18:11981335..11983833,2	K562	blood:
2	chr18:11908223..11910027-chr18:11929152..11931528,2	MCF-7	breast:
3	chr18:11907320..11908885-chr18:11925742..11927633,2	K562	blood:
4	chr18:11908295..11911131-chr18:11922206..11924377,2	K562	blood:
5	chr18:11907322..11909854-chr18:11924483..11927242,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAL-2	chr18:11928837-11929034	NONHSAT058332
2	lnc-GNAL-2	chr18:11929345-11929475	NONHSAT058332

No data

Variant related genes	Relation type
ENSG00000267661	TF binding region
ENSG00000141401	chromatin interactions
ENSG00000273141	chromatin interactions
ENSG00000154889	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568237835	chr18:11920726-11920727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550849542	chr18:11920779-11920780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569156222	chr18:11920781-11920782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138409424	chr18:11920790-11920791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199781762	chr18:11920799-11920800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555026985	chr18:11920809-11920810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186991494	chr18:11920839-11920840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141826534	chr18:11920865-11920866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191809530	chr18:11920869-11920870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558532079	chr18:11920935-11920936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577081126	chr18:11920939-11920940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541313241	chr18:11920944-11920945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550218671	chr18:11920965-11920966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61395748	chr18:11920976-11920977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559838895	chr18:11921034-11921035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530292046	chr18:11921102-11921103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183296782	chr18:11921109-11921110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549583020	chr18:11921173-11921174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563363750	chr18:11921174-11921175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530645544	chr18:11921212-11921213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs636812	chr18:11921233-11921234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570473433	chr18:11921235-11921236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548596793	chr18:11921251-11921252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142242437	chr18:11921259-11921260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546869334	chr18:11921287-11921288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370955127	chr18:11921313-11921314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113456608	chr18:11921318-11921319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146376355	chr18:11921364-11921365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12967915	chr18:11921374-11921375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs569766457	chr18:11921382-11921383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76187763	chr18:11921408-11921409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs637679	chr18:11921417-11921418	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144479352	chr18:11921427-11921428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369116004	chr18:11921434-11921435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576820968	chr18:11921445-11921446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534721744	chr18:11921447-11921448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs148406444	chr18:11921459-11921460	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571285323	chr18:11921470-11921471	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575049184	chr18:11921546-11921547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542382235	chr18:11921618-11921619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs373953420	chr18:11921666-11921667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs8082851	chr18:11921693-11921694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs56803109	chr18:11921717-11921718	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs538049908	chr18:11921747-11921748	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73945287	chr18:11921753-11921754	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144986940	chr18:11921772-11921773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62097420	chr18:11921794-11921795	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372295324	chr18:11921805-11921806	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79639032	chr18:11921822-11921823	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs56188313	chr18:11921888-11921889	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11917400-11921600	Weak transcription	K562	blood
2	chr18:11917800-11921400	Weak transcription	GM12878-XiMat	blood
3	chr18:11920200-11921400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr18:11920400-11921600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr18:11920400-11923200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:11921400-11921800	Enhancers	Liver	Liver
7	chr18:11921400-11922000	Flanking Active TSS	GM12878-XiMat	blood
8	chr18:11921400-11922200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:11921400-11922200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr18:11921600-11922000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:11921600-11922000	Enhancers	K562	blood
12	chr18:11921600-11922200	Enhancers	HepG2	liver
13	chr18:11921800-11922000	Flanking Active TSS	Liver	Liver
14	chr18:11921800-11922000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr18:11921800-11922200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr18:11921800-11922200	Enhancers	Hela-S3	cervix
17	chr18:11922000-11922200	Enhancers	GM12878-XiMat	blood
18	chr18:11922000-11922400	Active TSS	Liver	Liver
19	chr18:11922000-11922400	Active TSS	Duodenum Mucosa	Duodenum
20	chr18:11922000-11923400	Weak transcription	K562	blood
21	chr18:11922000-11924000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr18:11922200-11924000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr18:11922200-11925200	Weak transcription	Hela-S3	cervix
24	chr18:11922200-11925200	Weak transcription	HepG2	liver
25	chr18:11922200-11927200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:11923200-11927600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr18:11923400-11923800	Enhancers	K562	blood
28	chr18:11923800-11925200	Weak transcription	K562	blood
29	chr18:11924000-11925800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr18:11924000-11926200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr18:11925200-11926400	Enhancers	Hela-S3	cervix
32	chr18:11925200-11927400	Weak transcription	Fetal Lung	lung
33	chr18:11925200-11927600	Enhancers	HepG2	liver
34	chr18:11925200-11927800	Enhancers	K562	blood
35	chr18:11925800-11926200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr18:11926000-11926400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:11926000-11926400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:11926000-11926400	Enhancers	Left Ventricle	heart
39	chr18:11926200-11926600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr18:11926200-11928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:11926400-11927200	Weak transcription	Hela-S3	cervix
42	chr18:11926400-11927400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:11926600-11927800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr18:11927200-11927400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr18:11927200-11928000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr18:11927200-11928000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr18:11927200-11928000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:11927200-11928000	Enhancers	Hela-S3	cervix
49	chr18:11927200-11928600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:11927400-11927800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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