Variant report

Variant	nsv596196
Chromosome Location	chr4:172552959-172686095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:172560383-172561257	GM12878	blood:	n/a	n/a
2	ATF2	chr4:172560445-172561199	GM12878	blood:	n/a	n/a
3	ATF2	chr4:172565685-172566164	GM12878	blood:	n/a	n/a
4	BATF	chr4:172560547-172561113	GM12878	blood:	n/a	n/a
5	BATF	chr4:172564570-172564883	GM12878	blood:	n/a	n/a
6	BATF	chr4:172560551-172561155	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:172560567-172561088	GM12878	blood:	n/a	chr4:172560676-172560685
8	BCL11A	chr4:172597980-172598286	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:172672697-172672963	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:172565898-172566103	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:172560519-172561175	GM12878	blood:	n/a	chr4:172560676-172560685
12	BCL3	chr4:172560629-172561180	GM12878	blood:	n/a	chr4:172560676-172560685
13	BCLAF1	chr4:172560568-172561206	GM12878	blood:	n/a	chr4:172560676-172560685
14	BCLAF1	chr4:172597883-172598386	GM12878	blood:	n/a	n/a
15	BCLAF1	chr4:172560505-172561162	GM12878	blood:	n/a	chr4:172560676-172560685
16	BHLHE40	chr4:172560465-172561289	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:172598095-172598382	GM12878	blood:	n/a	n/a
18	BHLHE40	chr4:172565678-172566249	GM12878	blood:	n/a	n/a
19	BHLHE40	chr4:172672890-172673043	GM12878	blood:	n/a	n/a
20	CEBPB	chr4:172560601-172561124	GM12878	blood:	n/a	n/a
21	CEBPB	chr4:172641991-172642184	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:172623506-172623580	HepG2	liver:	n/a	n/a
23	CEBPB	chr4:172591553-172591853	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:172597096-172597118	K562	blood:	n/a	n/a
25	CEBPB	chr4:172591603-172591852	K562	blood:	n/a	n/a
26	CEBPB	chr4:172557776-172558145	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr4:172636835-172637035	HepG2	liver:	n/a	chr4:172636946-172636957
28	CEBPB	chr4:172565838-172566038	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr4:172560485-172561460	GM12878	blood:	n/a	n/a
30	CHD2	chr4:172560631-172561143	GM12878	blood:	n/a	n/a
31	CREB1	chr4:172565598-172566260	GM12878	blood:	n/a	n/a
32	CREB1	chr4:172560488-172561143	GM12878	blood:	n/a	n/a
33	CREB1	chr4:172560440-172561297	GM12878	blood:	n/a	n/a
34	CTCF	chr4:172571800-172571950	GM12871	blood:	n/a	n/a
35	CTCF	chr4:172571820-172571970	GM12875	blood:	n/a	n/a
36	CTCF	chr4:172571880-172572030	GM12864	blood:	n/a	n/a
37	CTCF	chr4:172571840-172571990	GM12866	blood:	n/a	n/a
38	CTCF	chr4:172571860-172572010	HepG2	liver:	n/a	n/a
39	CTCF	chr4:172571880-172572030	GM12866	blood:	n/a	n/a
40	CTCF	chr4:172571821-172572005	GM13977	blood:	n/a	n/a
41	CTCF	chr4:172571860-172572010	NB4	blood:	n/a	n/a
42	CTCF	chr4:172601460-172601610	HRE	kidney:	n/a	n/a
43	CTCF	chr4:172571840-172571990	HMEC	breast:	n/a	n/a
44	CTCF	chr4:172591642-172591688	GM12878	blood:	n/a	n/a
45	CTCF	chr4:172571860-172571993	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr4:172571880-172572030	GM12869	blood:	n/a	n/a
47	CTCF	chr4:172571840-172571990	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr4:172571854-172571972	Gliobla	brain:	n/a	n/a
49	CTCF	chr4:172571856-172571987	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr4:172571760-172571910	GM12869	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:172535314..172537832-chr4:172551510..172553549,2	K562	blood:
2	chr4:172549383..172552070-chr4:172555751..172557689,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-6	chr4:172559811-172559914	XLOC_004160
2	lnc-AADAT-6	chr4:172557144-172557228	XLOC_004160
3	lnc-AADAT-6	chr4:172559811-172559912	XLOC_004160
4	lnc-AADAT-6	chr4:172577884-172577960	XLOC_004160
5	lnc-AADAT-6	chr4:172557136-172557228	XLOC_004160

No data

Variant related genes	Relation type
ENSG00000249297	TF binding region
ARHGAP19	miRNA target sites

Extended variants
information (count: 1829 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1829 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1565469	chr4:172552959-172552960	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190600650	chr4:172552960-172552961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183166866	chr4:172552980-172552981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115306792	chr4:172552982-172552983	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374935373	chr4:172552992-172552993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552535901	chr4:172553613-172553614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566768881	chr4:172553632-172553633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535174583	chr4:172553689-172553690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187708132	chr4:172553698-172553699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371149175	chr4:172553719-172553720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554998349	chr4:172553728-172553729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575358486	chr4:172553729-172553730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544363989	chr4:172553865-172553866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145182521	chr4:172553909-172553910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532171766	chr4:172553933-172553934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577848967	chr4:172554084-172554085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145070591	chr4:172554095-172554096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76951633	chr4:172554105-172554106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114593103	chr4:172554106-172554107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58054650	chr4:172554113-172554114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7442599	chr4:172554169-172554170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78901875	chr4:172554198-172554199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537567180	chr4:172554213-172554214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192324152	chr4:172554246-172554247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551928671	chr4:172554341-172554342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565472965	chr4:172554352-172554353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527976317	chr4:172554362-172554363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546236995	chr4:172554363-172554364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566135028	chr4:172554365-172554366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112686525	chr4:172554480-172554481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398108322	chr4:172554483-172554484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150918472	chr4:172554498-172554499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138213920	chr4:172554500-172554501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554387510	chr4:172554501-172554502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141913514	chr4:172554502-172554503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184685423	chr4:172554514-172554515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139011926	chr4:172554671-172554672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs207465272	chr4:172554710-172554711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568909351	chr4:172554744-172554745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576165279	chr4:172554769-172554770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554603402	chr4:172554806-172554807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557920090	chr4:172554857-172554858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577902910	chr4:172554859-172554860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534081744	chr4:172554868-172554869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572651276	chr4:172554873-172554874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189471885	chr4:172554885-172554886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35463776	chr4:172554897-172554898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181485064	chr4:172554978-172554979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184433611	chr4:172554979-172554980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376472594	chr4:172555011-172555012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172551000-172553000	Active TSS	K562	blood
2	chr4:172553600-172557200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:172557000-172558000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:172560000-172560200	Enhancers	GM12878-XiMat	blood
5	chr4:172560200-172560600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:172560200-172560600	Flanking Active TSS	GM12878-XiMat	blood
7	chr4:172560600-172561000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:172560600-172561000	Active TSS	GM12878-XiMat	blood
9	chr4:172560600-172561200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:172560600-172561200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:172560600-172561400	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:172561000-172561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:172561000-172562200	Flanking Active TSS	GM12878-XiMat	blood
14	chr4:172561200-172563600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:172561200-172564200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:172561400-172564000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:172561400-172564200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:172562200-172562400	Enhancers	GM12878-XiMat	blood
19	chr4:172562400-172563200	ZNF genes & repeats	GM12878-XiMat	blood
20	chr4:172563400-172564800	ZNF genes & repeats	GM12878-XiMat	blood
21	chr4:172563400-172565400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:172563600-172563800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:172563600-172564200	Enhancers	Placenta	Placenta
24	chr4:172563600-172564800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:172563600-172566400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:172564000-172565000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:172564000-172565600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:172564200-172565600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:172564200-172565800	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:172564800-172565600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:172564800-172565600	Enhancers	GM12878-XiMat	blood
32	chr4:172565000-172565400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:172565400-172565600	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:172565400-172565600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:172565600-172565800	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr4:172565600-172566000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:172565600-172566000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr4:172565600-172566000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:172565600-172566000	Enhancers	Fetal Muscle Leg	muscle
40	chr4:172565600-172566000	Flanking Active TSS	GM12878-XiMat	blood
41	chr4:172565600-172566200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:172565600-172566200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:172565600-172566400	Enhancers	Primary B cells from cord blood	blood
44	chr4:172565600-172566400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:172565600-172566400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:172565600-172566400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:172565600-172566800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:172565800-172566000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr4:172565800-172566200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:172565800-172566200	Flanking Active TSS	Primary B cells from peripheral blood	blood

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