Variant report

Variant	nsv1014428
Chromosome Location	chr4:80089712-80132813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:366)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:80119960-80120407	K562	blood:	n/a	n/a
2	ARID3A	chr4:80132360-80133178	K562	blood:	n/a	n/a
3	ARID3A	chr4:80131117-80132132	K562	blood:	n/a	n/a
4	ATF1	chr4:80120027-80120648	K562	blood:	n/a	n/a
5	ATF1	chr4:80131154-80131695	K562	blood:	n/a	n/a
6	ATF1	chr4:80132469-80132933	K562	blood:	n/a	n/a
7	ATF1	chr4:80096662-80096856	K562	blood:	n/a	n/a
8	ATF2	chr4:80098428-80099006	GM12878	blood:	n/a	n/a
9	ATF2	chr4:80091185-80091615	GM12878	blood:	n/a	n/a
10	ATF2	chr4:80103408-80103743	GM12878	blood:	n/a	n/a
11	ATF2	chr4:80098415-80098967	GM12878	blood:	n/a	n/a
12	ATF2	chr4:80091193-80091628	GM12878	blood:	n/a	n/a
13	ATF3	chr4:80131338-80131528	K562	blood:	n/a	n/a
14	ATF3	chr4:80119950-80120391	K562	blood:	n/a	n/a
15	BATF	chr4:80098563-80098841	GM12878	blood:	n/a	chr4:80098707-80098718
16	BATF	chr4:80103384-80103619	GM12878	blood:	n/a	chr4:80103484-80103495
17	BATF	chr4:80098516-80098835	GM12878	blood:	n/a	chr4:80098707-80098718
18	BCL11A	chr4:80098450-80098934	GM12878	blood:	n/a	chr4:80098857-80098866
19	BCL11A	chr4:80098574-80098811	GM12878	blood:	n/a	n/a
20	BCL3	chr4:80098528-80098909	GM12878	blood:	n/a	chr4:80098857-80098866
21	BHLHE40	chr4:80103365-80103712	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:80130883-80131688	K562	blood:	n/a	n/a
23	BHLHE40	chr4:80132641-80133051	K562	blood:	n/a	n/a
24	BHLHE40	chr4:80099234-80099420	GM12878	blood:	n/a	n/a
25	BHLHE40	chr4:80098506-80098899	GM12878	blood:	n/a	n/a
26	BRCA1	chr4:80100049-80100243	GM12878	blood:	n/a	n/a
27	CBX3	chr4:80120034-80120419	K562	blood:	n/a	n/a
28	CBX3	chr4:80127737-80128212	K562	blood:	n/a	n/a
29	CBX3	chr4:80132549-80132992	K562	blood:	n/a	n/a
30	CBX3	chr4:80131198-80131627	K562	blood:	n/a	n/a
31	CBX3	chr4:80130824-80131786	K562	blood:	n/a	n/a
32	CCNT2	chr4:80120044-80120388	K562	blood:	n/a	n/a
33	CCNT2	chr4:80132610-80132934	K562	blood:	n/a	chr4:80132775-80132784
34	CCNT2	chr4:80131290-80132190	K562	blood:	n/a	n/a
35	CEBPB	chr4:80131293-80131664	K562	blood:	n/a	n/a
36	CEBPB	chr4:80100736-80100936	HepG2	liver:	n/a	chr4:80100791-80100802
37	CEBPB	chr4:80132687-80132979	K562	blood:	n/a	n/a
38	CEBPB	chr4:80098432-80098988	GM12878	blood:	n/a	n/a
39	CEBPB	chr4:80119855-80120594	K562	blood:	n/a	chr4:80120473-80120490 chr4:80120474-80120487 chr4:80120474-80120487 chr4:80120474-80120485 chr4:80120474-80120485
40	CEBPB	chr4:80104152-80104439	K562	blood:	n/a	chr4:80104277-80104288 chr4:80104277-80104290 chr4:80104277-80104290 chr4:80104277-80104290
41	CEBPB	chr4:80131368-80131598	HepG2	liver:	n/a	n/a
42	CEBPB	chr4:80120036-80120408	K562	blood:	n/a	n/a
43	CEBPB	chr4:80131285-80131719	K562	blood:	n/a	n/a
44	CEBPB	chr4:80131212-80131789	K562	blood:	n/a	n/a
45	CEBPB	chr4:80131337-80131684	Hela-S3	cervix:	n/a	n/a
46	CEBPD	chr4:80131183-80131752	K562	blood:	n/a	n/a
47	CEBPD	chr4:80131209-80131772	K562	blood:	n/a	n/a
48	CEBPD	chr4:80120042-80120491	K562	blood:	n/a	n/a
49	CHD2	chr4:80131379-80131647	K562	blood:	n/a	n/a
50	CHD2	chr4:80132494-80132989	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:80122838..80125677-chr4:80129112..80131710,3	K562	blood:
2	chr4:80127482..80129518-chr4:80129789..80131371,2	K562	blood:
3	chr4:80126283..80129035-chr4:80131457..80134013,2	K562	blood:
4	chr4:80126178..80129035-chr4:80131457..80134013,3	K562	blood:
5	chr4:80103781..80106633-chr4:80109334..80111501,3	K562	blood:
6	chr4:80119166..80122635-chr4:80123196..80126603,4	K562	blood:
7	chr4:80127482..80129518-chr4:80129789..80131371,2	K562	blood:
8	chr4:80129511..80131347-chr4:80133541..80135090,2	K562	blood:
9	chr4:80119166..80122635-chr4:80123196..80126603,4	K562	blood:
10	chr4:80130065..80132388-chr4:80165360..80168173,2	K562	blood:
11	chr4:80122838..80125677-chr4:80129112..80131710,3	K562	blood:
12	chr4:80127282..80129956-chr4:80145242..80147317,2	K562	blood:
13	chr4:80119134..80120875-chr4:80131892..80134221,2	K562	blood:
14	chr4:80114833..80117563-chr4:80125822..80128575,2	K562	blood:
15	chr4:80130888..80132552-chr4:80164222..80166860,2	K562	blood:
16	chr4:80096018..80097733-chr4:80135915..80138314,2	K562	blood:
17	chr4:80103781..80106633-chr4:80109334..80111501,3	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMP2K-1	chr4:80113178-80113230	l_2674_chr4:80088967-80336103_prostate
2	lnc-BMP2K-1	chr4:80116990-80117086	NONHSAT097098
3	lnc-BMP2K-1	chr4:80123177-80123269	l_2674_chr4:80088967-80336103_prostate
4	lnc-BMP2K-1	chr4:80118695-80118798	ENSG00000249307.1
5	lnc-BMP2K-1	chr4:80116990-80117086	ENSG00000249307.1
6	lnc-BMP2K-1	chr4:80116988-80117086	ENSG00000249307.1
7	lnc-BMP2K-1	chr4:80116991-80117086	ENSG00000249307.1
8	lnc-BMP2K-1	chr4:80126100-80126506	l_2674_chr4:80088967-80336103_prostate
9	lnc-BMP2K-1	chr4:80111678-80112054	l_2674_chr4:80088967-80336103_prostate
10	lnc-BMP2K-1	chr4:80116990-80117086	ENSG00000249307.1

No data

Variant related genes	Relation type
LINC01088	TF binding region
ENSG00000249307	chromatin interactions

Extended variants
information (count: 1049 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565263206	chr4:80089721-80089722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533110847	chr4:80089725-80089726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543706157	chr4:80089734-80089735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144243531	chr4:80089798-80089799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529053911	chr4:80089809-80089810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528468083	chr4:80089901-80089902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549189025	chr4:80089902-80089903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565683918	chr4:80089969-80089970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528167207	chr4:80089977-80089978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115574166	chr4:80090018-80090019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180966590	chr4:80090042-80090043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537363826	chr4:80090076-80090077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185438798	chr4:80090096-80090097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567526798	chr4:80090105-80090106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370345112	chr4:80090149-80090150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546955487	chr4:80090171-80090172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536490365	chr4:80090173-80090174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146549530	chr4:80090195-80090196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190297851	chr4:80090304-80090305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573288057	chr4:80090348-80090349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545471408	chr4:80090359-80090360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375349399	chr4:80090375-80090376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558696733	chr4:80090501-80090502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575566785	chr4:80090511-80090512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369408202	chr4:80090519-80090520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543744834	chr4:80090582-80090583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563534576	chr4:80090583-80090584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141257926	chr4:80090587-80090588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561891739	chr4:80090588-80090589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559483627	chr4:80090676-80090677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528188714	chr4:80090699-80090700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144981831	chr4:80090705-80090706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564726580	chr4:80090731-80090732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530383576	chr4:80090732-80090733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61017324	chr4:80090748-80090749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397793646	chr4:80090752-80090753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148069832	chr4:80090904-80090905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567668142	chr4:80090929-80090930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs6847031	chr4:80090952-80090953	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546914654	chr4:80090973-80090974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567021305	chr4:80091005-80091006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538778560	chr4:80091016-80091017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558964054	chr4:80091041-80091042	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs56860020	chr4:80091081-80091082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374034043	chr4:80091164-80091165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183015574	chr4:80091209-80091210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554979148	chr4:80091284-80091285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73828226	chr4:80091313-80091314	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373316437	chr4:80091314-80091315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115501661	chr4:80091334-80091335	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80085800-80090800	Weak transcription	GM12878-XiMat	blood
2	chr4:80086400-80093600	Weak transcription	Fetal Lung	lung
3	chr4:80090800-80091400	ZNF genes & repeats	GM12878-XiMat	blood
4	chr4:80091400-80091600	Weak transcription	GM12878-XiMat	blood
5	chr4:80091600-80091800	Enhancers	GM12878-XiMat	blood
6	chr4:80091800-80094000	Weak transcription	GM12878-XiMat	blood
7	chr4:80093200-80094400	Enhancers	Colon Smooth Muscle	Colon
8	chr4:80093600-80094200	Enhancers	Fetal Lung	lung
9	chr4:80093800-80094400	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:80093800-80098200	Enhancers	Fetal Stomach	stomach
11	chr4:80094000-80094400	Active TSS	Fetal Brain Male	brain
12	chr4:80094000-80095200	Enhancers	GM12878-XiMat	blood
13	chr4:80094200-80095600	Weak transcription	Fetal Lung	lung
14	chr4:80094400-80095800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:80094400-80096400	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:80094400-80097000	Weak transcription	Fetal Brain Male	brain
17	chr4:80095200-80102800	Weak transcription	GM12878-XiMat	blood
18	chr4:80095600-80096600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:80095600-80096800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:80095600-80097400	Enhancers	Fetal Lung	lung
21	chr4:80095800-80096600	Enhancers	Fetal Kidney	kidney
22	chr4:80095800-80097200	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:80096000-80096400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:80096200-80096600	Enhancers	Stomach Smooth Muscle	stomach
25	chr4:80096200-80097200	Enhancers	K562	blood
26	chr4:80096400-80097600	Enhancers	Colon Smooth Muscle	Colon
27	chr4:80096600-80097000	Weak transcription	Fetal Kidney	kidney
28	chr4:80096600-80097000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:80096600-80097200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:80097000-80097200	Enhancers	Fetal Kidney	kidney
31	chr4:80097000-80097200	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:80097000-80097600	Enhancers	Fetal Brain Male	brain
33	chr4:80097200-80098000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:80097200-80098000	Weak transcription	K562	blood
35	chr4:80097200-80099600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:80097200-80100600	Weak transcription	Fetal Kidney	kidney
37	chr4:80097400-80099600	Weak transcription	Fetal Lung	lung
38	chr4:80097600-80099400	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:80097600-80099600	Weak transcription	Fetal Brain Male	brain
40	chr4:80098000-80098200	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:80098000-80098600	Enhancers	K562	blood
42	chr4:80098200-80098600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:80098200-80105400	Weak transcription	Fetal Stomach	stomach
44	chr4:80098400-80098800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:80098600-80100000	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:80098600-80102600	Weak transcription	K562	blood
47	chr4:80099200-80100000	Enhancers	Fetal Heart	heart
48	chr4:80099200-80100600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:80099400-80100400	Enhancers	Colon Smooth Muscle	Colon
50	chr4:80099600-80100000	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links