Variant report

Variant	nsv881360
Chromosome Location	chr4:172315768-172491284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:172431444-172431445	K562	blood:	n/a	n/a
2	BATF	chr4:172440668-172440899	GM12878	blood:	n/a	n/a
3	BATF	chr4:172442956-172443210	GM12878	blood:	n/a	n/a
4	BATF	chr4:172437873-172438100	GM12878	blood:	n/a	n/a
5	BATF	chr4:172482588-172482958	GM12878	blood:	n/a	n/a
6	BATF	chr4:172437862-172438152	GM12878	blood:	n/a	n/a
7	BATF	chr4:172482626-172482847	GM12878	blood:	n/a	n/a
8	BATF	chr4:172351661-172352035	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:172442922-172443175	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:172394476-172394542	GM12878	blood:	n/a	n/a
11	CCNT2	chr4:172392140-172392340	K562	blood:	n/a	n/a
12	CCNT2	chr4:172417411-172417571	K562	blood:	n/a	n/a
13	CEBPB	chr4:172455324-172455674	HepG2	liver:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
14	CEBPB	chr4:172446966-172447056	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:172369099-172369446	IMR90	lung:	n/a	chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369272-172369283 chr4:172369274-172369283 chr4:172369274-172369285
16	CEBPB	chr4:172459975-172460213	A549	lung:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
17	CEBPB	chr4:172455391-172455591	A549	lung:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
18	CEBPB	chr4:172356271-172356397	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:172459925-172460246	HepG2	liver:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
20	CEBPB	chr4:172455378-172455651	IMR90	lung:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
21	CEBPB	chr4:172398667-172398910	HepG2	liver:	n/a	chr4:172398829-172398840
22	CEBPB	chr4:172478592-172478766	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr4:172369264-172369330	K562	blood:	n/a	chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369272-172369283 chr4:172369274-172369283 chr4:172369274-172369285
24	CEBPB	chr4:172369158-172369405	H1-hESC	embryonic stem cell:	n/a	chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369272-172369283 chr4:172369274-172369283 chr4:172369274-172369285
25	CEBPB	chr4:172433261-172433503	HepG2	liver:	n/a	chr4:172433432-172433443
26	CEBPB	chr4:172467371-172467590	K562	blood:	n/a	n/a
27	CEBPB	chr4:172459966-172460180	K562	blood:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
28	CEBPB	chr4:172369109-172369454	HepG2	liver:	n/a	chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369274-172369283 chr4:172369272-172369283 chr4:172369274-172369283 chr4:172369274-172369285
29	CEBPB	chr4:172360395-172360608	HepG2	liver:	n/a	chr4:172360473-172360490
30	CEBPB	chr4:172455392-172455592	K562	blood:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
31	CEBPB	chr4:172362417-172362543	Hela-S3	cervix:	n/a	chr4:172362429-172362442 chr4:172362426-172362443 chr4:172362431-172362442 chr4:172362429-172362442 chr4:172362451-172362462 chr4:172362431-172362442
32	CEBPB	chr4:172459911-172460238	Hela-S3	cervix:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
33	CTCF	chr4:172326380-172326530	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr4:172471103-172471176	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr4:172342665-172342953	GM12878	blood:	n/a	n/a
36	CTCF	chr4:172410385-172410457	GM13977	blood:	n/a	n/a
37	CTCF	chr4:172411300-172411450	GM12872	blood:	n/a	n/a
38	CTCF	chr4:172484926-172485011	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr4:172361340-172361490	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:172361300-172361450	GM12871	blood:	n/a	n/a
41	CTCF	chr4:172329081-172329109	GM20000	blood:	n/a	n/a
42	CUX1	chr4:172394681-172394736	GM12878	blood:	n/a	n/a
43	CUX1	chr4:172437963-172438091	GM12878	blood:	n/a	n/a
44	E2F4	chr4:172475225-172475288	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr4:172459947-172460147	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr4:172467322-172467537	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr4:172450794-172450989	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr4:172387593-172387768	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr4:172447130-172447330	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr4:172394209-172394867	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
2	chr4:172215180..172217206-chr4:172338805..172340584,2	K562	blood:
3	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:
4	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
5	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
6	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:
7	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
8	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
9	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
10	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:
11	chr1:214429883..214430693-chr4:172382652..172383247,2	MCF-7	breast:
12	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-5	chr4:172485115-172485236	XLOC_004159
2	lnc-AADAT-5	chr4:172485363-172485418	XLOC_004159
3	lnc-AADAT-5	chr4:172474151-172474376	XLOC_004159

Variant related genes	Relation type
ENSG00000251176	TF binding region

Extended variants
information (count: 1579 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1579 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528273401	chr4:172317909-172317910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546303938	chr4:172317930-172317931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377435831	chr4:172317937-172317938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56406906	chr4:172317975-172317976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533180496	chr4:172317992-172317993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549733564	chr4:172318004-172318005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568279371	chr4:172318073-172318074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548331345	chr4:172318120-172318121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142785965	chr4:172318134-172318135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79601551	chr4:172318148-172318149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113047746	chr4:172318198-172318199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569348756	chr4:172321000-172321001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537924335	chr4:172321038-172321039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369713045	chr4:172321055-172321056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578233455	chr4:172321157-172321158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35043752	chr4:172321212-172321213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73867280	chr4:172321217-172321218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554549105	chr4:172321267-172321268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559672422	chr4:172321307-172321308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546163818	chr4:172321342-172321343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148982107	chr4:172321429-172321430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145768377	chr4:172321455-172321456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575157223	chr4:172321471-172321472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551110145	chr4:172321547-172321548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374059926	chr4:172321555-172321556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188207109	chr4:172321579-172321580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563829632	chr4:172321585-172321586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533007002	chr4:172321598-172321599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146582453	chr4:172321618-172321619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560027620	chr4:172321632-172321633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529116627	chr4:172321642-172321643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549378788	chr4:172321660-172321661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569185043	chr4:172321787-172321788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538222836	chr4:172321796-172321797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551621266	chr4:172321841-172321842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114294995	chr4:172321922-172321923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534392701	chr4:172321951-172321952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181798238	chr4:172321974-172321975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371879007	chr4:172321976-172321977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571185789	chr4:172321977-172321978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374149308	chr4:172321984-172321985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536574397	chr4:172321998-172321999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556803432	chr4:172322001-172322002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575175004	chr4:172322046-172322047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536754450	chr4:172322085-172322086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557618771	chr4:172322116-172322117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548171654	chr4:172322132-172322133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550213037	chr4:172322141-172322142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567566569	chr4:172322151-172322152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544193271	chr4:172322166-172322167	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172317800-172318200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:172321000-172321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:172321200-172322000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:172322000-172322400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:172322000-172322400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:172322000-172322400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:172322000-172322400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:172322400-172326400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:172326000-172326600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:172326400-172326600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:172326600-172327400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:172327400-172327600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:172367400-172368800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:172367600-172368600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:172381400-172381800	Active TSS	Fetal Heart	heart
16	chr4:172382400-172383000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:172382400-172383200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:172382600-172383000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:172394000-172395000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:172404800-172405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:172405000-172405800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:172405800-172406200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:172418000-172418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:172436000-172442000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:172439400-172440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:172439600-172440600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:172440200-172440600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:172441600-172442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:172441800-172442200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:172442000-172442200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:172442200-172444800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:172442200-172446000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:172444800-172445400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:172445200-172446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:172446000-172446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:172446200-172446400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:172446200-172446400	Enhancers	Primary hematopoietic stem cells	blood
38	chr4:172446200-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:172446400-172447400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:172446600-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:172447000-172447600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr4:172447400-172447600	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:172454000-172454600	Active TSS	Aorta	Aorta
44	chr4:172454000-172454600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr4:172458000-172458200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:172458200-172458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:172458800-172460600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:172459800-172460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:172460000-172460600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:172472200-172472600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links