Variant report

Variant	nsv528320
Chromosome Location	chr4:165809314-165827749
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	ATF2	chr4:165820081-165820453	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr4:165819988-165820431	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr4:165815851-165816286	GM12878	blood:	n/a	n/a
4	BATF	chr4:165815873-165816270	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:165815953-165816206	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:165811702-165812242	GM12878	blood:	n/a	n/a
7	CEBPB	chr4:165826081-165826493	H1-hESC	embryonic stem cell:	n/a	chr4:165826085-165826098 chr4:165826399-165826410
8	CEBPB	chr4:165826242-165826531	HepG2	liver:	n/a	chr4:165826399-165826410
9	CEBPB	chr4:165826250-165826537	K562	blood:	n/a	chr4:165826399-165826410
10	CEBPB	chr4:165824361-165824554	K562	blood:	n/a	n/a
11	CEBPB	chr4:165826047-165826433	A549	lung:	n/a	chr4:165826085-165826098 chr4:165826399-165826410
12	CEBPB	chr4:165814888-165815064	K562	blood:	n/a	n/a
13	CEBPB	chr4:165814884-165815014	A549	lung:	n/a	n/a
14	CEBPB	chr4:165824559-165824582	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:165814991-165815031	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr4:165816236-165816280	GM12878	blood:	n/a	n/a
17	CTCF	chr4:165824618-165824646	Lung_OC	lung:	n/a	n/a
18	CTCF	chr4:165822240-165822390	GM12865	blood:	n/a	n/a
19	EBF1	chr4:165813186-165813478	GM12878	blood:	n/a	n/a
20	EBF1	chr4:165811856-165812132	GM12878	blood:	n/a	n/a
21	EBF1	chr4:165813146-165813583	GM12878	blood:	n/a	n/a
22	EBF1	chr4:165815927-165816335	GM12878	blood:	n/a	n/a
23	EP300	chr4:165811737-165812218	GM12878	blood:	n/a	n/a
24	EP300	chr4:165809547-165809816	GM12878	blood:	n/a	n/a
25	EP300	chr4:165811892-165812217	GM12878	blood:	n/a	n/a
26	EP300	chr4:165815935-165816273	GM12878	blood:	n/a	chr4:165816101-165816115
27	EP300	chr4:165815972-165816228	GM12878	blood:	n/a	chr4:165816101-165816115
28	FOS	chr4:165815957-165816157	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:165827687-165827812	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
30	FOS	chr4:165827675-165827830	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
31	FOS	chr4:165816035-165816152	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:165827714-165827810	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
33	FOS	chr4:165827676-165827842	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
34	FOSL2	chr4:165827551-165827827	HepG2	liver:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
35	FOSL2	chr4:165827640-165827873	MCF-7	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
36	FOXA1	chr4:165827592-165827834	HepG2	liver:	n/a	n/a
37	GATA2	chr4:165827075-165827379	K562	blood:	n/a	n/a
38	IKZF1	chr4:165813196-165813593	GM12878	blood:	n/a	n/a
39	IRF4	chr4:165815834-165816332	GM12878	blood:	n/a	n/a
40	JUND	chr4:165827630-165827830	HepG2	liver:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827747-165827758 chr4:165827749-165827758
41	MAX	chr4:165826297-165826403	NB4	blood:	n/a	n/a
42	MAX	chr4:165822337-165822354	GM12878	blood:	n/a	n/a
43	MAX	chr4:165820313-165820316	GM12878	blood:	n/a	n/a
44	MEF2A	chr4:165815897-165816219	GM12878	blood:	n/a	n/a
45	MEF2A	chr4:165815824-165816328	GM12878	blood:	n/a	n/a
46	MEF2C	chr4:165815798-165816283	GM12878	blood:	n/a	n/a
47	MXI1	chr4:165811900-165812182	GM12878	blood:	n/a	n/a
48	MXI1	chr4:165809711-165809756	GM12878	blood:	n/a	n/a
49	MXI1	chr4:165814460-165814461	K562	blood:	n/a	n/a
50	MYC	chr4:165822281-165822339	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165818735..165821525-chr4:166031427..166033920,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf39-1	chr4:165817616-165818137	ENSG00000248329
2	lnc-C4orf39-1	chr4:165816568-165818675	ENSG00000248329
3	lnc-C4orf39-1	chr4:165817960-165818137	ENSG00000248329
4	lnc-C4orf39-1	chr4:165816568-165818676	NONHSAT099080
5	lnc-C4orf39-1	chr4:165819878-165820117	ENSG00000248329
6	lnc-C4orf39-1	chr4:165816368-165818669	NONHSAT099084
7	lnc-C4orf39-1	chr4:165819878-165820117	ENSG00000248329

Variant related genes	Relation type
ENSG00000248329	TF binding region
TRAIP	miRNA target sites
SAPS2	miRNA target sites
DNAJB4	miRNA target sites
RNF149	miRNA target sites
TMEM63B	miRNA target sites

Extended variants
information (count: 793 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7689199	chr4:165809314-165809315	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372873331	chr4:165809358-165809359	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565155737	chr4:165809364-165809365	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530899586	chr4:165809379-165809380	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183889256	chr4:165809494-165809495	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572910642	chr4:165809606-165809607	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550803954	chr4:165809632-165809633	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534136494	chr4:165809657-165809658	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138038131	chr4:165809706-165809707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188921052	chr4:165809710-165809711	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574005039	chr4:165809738-165809739	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13102757	chr4:165809747-165809748	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562835636	chr4:165809775-165809776	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17045743	chr4:165809791-165809792	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377416596	chr4:165809813-165809814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545480568	chr4:165809841-165809842	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574254996	chr4:165809844-165809845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138181561	chr4:165809852-165809853	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62353640	chr4:165809904-165809905	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549679086	chr4:165809912-165809913	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113224525	chr4:165809914-165809915	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370506080	chr4:165809917-165809918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59520005	chr4:165809926-165809927	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192971833	chr4:165809960-165809961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185202220	chr4:165809969-165809970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143450844	chr4:165810090-165810091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567054753	chr4:165810126-165810127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112341532	chr4:165810137-165810138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34497263	chr4:165810138-165810139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397801292	chr4:165810148-165810149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187340339	chr4:165810181-165810182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373622980	chr4:165810218-165810219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539154732	chr4:165810224-165810225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551051647	chr4:165810225-165810226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566704800	chr4:165810229-165810230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13108597	chr4:165810241-165810242	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28403504	chr4:165810246-165810247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537012684	chr4:165810258-165810259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573866260	chr4:165810274-165810275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13108596	chr4:165810282-165810283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541628781	chr4:165810292-165810293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578064732	chr4:165810296-165810297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564005133	chr4:165810317-165810318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545568489	chr4:165810346-165810347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560364590	chr4:165810364-165810365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572634902	chr4:165810439-165810440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73000200	chr4:165810463-165810464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561505394	chr4:165810477-165810478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531913717	chr4:165810510-165810511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550020711	chr4:165810517-165810518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165798800-165809400	Weak transcription	Fetal Lung	lung
2	chr4:165800800-165822400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:165801600-165809800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:165802600-165812400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr4:165803000-165809600	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr4:165803000-165811800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:165803000-165813800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:165803200-165811600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:165805800-165814400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:165806400-165815200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:165806400-165818600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:165808400-165809400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:165808400-165809800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:165808600-165810800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:165809000-165810200	Enhancers	Fetal Stomach	stomach
16	chr4:165809200-165810000	Enhancers	GM12878-XiMat	blood
17	chr4:165809400-165810000	Enhancers	Fetal Lung	lung
18	chr4:165809400-165810200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:165809600-165809800	Genic enhancers	H9 Cell Line	embryonic stem cell
20	chr4:165809800-165810000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:165809800-165816000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:165809800-165819400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:165810000-165811200	Weak transcription	GM12878-XiMat	blood
24	chr4:165810200-165811200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:165810800-165811400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:165811200-165813000	Enhancers	GM12878-XiMat	blood
27	chr4:165811200-165813600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:165811400-165812800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:165811600-165816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:165811800-165812200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:165812200-165820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:165812400-165813200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:165812800-165813600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:165813000-165813600	Flanking Active TSS	GM12878-XiMat	blood
35	chr4:165813200-165813400	Genic enhancers	H1 Cell Line	embryonic stem cell
36	chr4:165813200-165813400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:165813400-165815600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:165813400-165825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:165813600-165815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:165813600-165815800	Enhancers	GM12878-XiMat	blood
41	chr4:165813600-165826200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:165813800-165816000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:165814400-165814800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:165814800-165815400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:165815200-165816200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:165815400-165819200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:165815600-165819200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:165815600-165820400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr4:165815800-165816400	Flanking Active TSS	GM12878-XiMat	blood
50	chr4:165816000-165819000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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