Variant report

Variant	esv2757083
Chromosome Location	chr4:132424371-132497886
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	chr4:132468655-132469308	GM12878	blood:	n/a	n/a
2	BATF	chr4:132468793-132469303	GM12878	blood:	n/a	n/a
3	BATF	chr4:132469892-132470158	GM12878	blood:	n/a	chr4:132470014-132470025 chr4:132469980-132469991
4	BCL11A	chr4:132469009-132469193	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:132468778-132469283	GM12878	blood:	n/a	n/a
6	BCLAF1	chr4:132468685-132469223	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:132468935-132469065	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:132464782-132465069	IMR90	lung:	n/a	chr4:132464923-132464934
9	CEBPB	chr4:132464778-132465054	HepG2	liver:	n/a	chr4:132464923-132464934
10	CEBPB	chr4:132466355-132466748	HepG2	liver:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
11	CEBPB	chr4:132466384-132466785	IMR90	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
12	CEBPB	chr4:132466435-132466751	A549	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
13	CHD2	chr4:132434674-132434726	HepG2	liver:	n/a	n/a
14	CTCF	chr4:132461480-132461630	MCF-7	breast:	n/a	n/a
15	CTCF	chr4:132438900-132439050	NHEK	skin:	n/a	n/a
16	CTCF	chr4:132438960-132439110	GM12874	blood:	n/a	n/a
17	CTCF	chr4:132441967-132442092	Lung_OC	lung:	n/a	n/a
18	CTCF	chr4:132438900-132439050	MCF-7	breast:	n/a	n/a
19	CTCF	chr4:132471808-132471857	Medullo	brain:	n/a	n/a
20	CTCF	chr4:132438800-132438950	GM12872	blood:	n/a	n/a
21	E2F4	chr4:132436477-132436623	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr4:132464922-132465333	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr4:132465925-132466351	SK-N-SH_RA	brain:	n/a	chr4:132465987-132465996
24	EP300	chr4:132465929-132466291	SK-N-SH_RA	brain:	n/a	chr4:132465987-132465996
25	EP300	chr4:132447215-132447297	GM12878	blood:	n/a	n/a
26	EP300	chr4:132468844-132468994	GM12878	blood:	n/a	n/a
27	EP300	chr4:132468895-132469313	GM12878	blood:	n/a	n/a
28	EP300	chr4:132468722-132469016	GM12878	blood:	n/a	n/a
29	FOS	chr4:132487094-132487531	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
30	FOS	chr4:132458907-132459155	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
31	FOS	chr4:132487200-132487531	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
32	FOS	chr4:132458840-132459151	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
33	FOS	chr4:132458831-132459154	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
34	FOS	chr4:132487198-132487531	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
35	FOS	chr4:132487246-132487452	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
36	FOS	chr4:132458825-132459155	MCF10A-Er-Src	breast:	n/a	chr4:132458991-132459002 chr4:132458994-132459003
37	FOSL2	chr4:132469876-132470130	HepG2	liver:	n/a	n/a
38	FOXM1	chr4:132468729-132469235	GM12878	blood:	n/a	n/a
39	FOXM1	chr4:132468685-132469143	GM12878	blood:	n/a	n/a
40	GATA3	chr4:132435700-132435941	SH-SY5Y	brain:	n/a	chr4:132435851-132435872 chr4:132435854-132435870
41	GATA3	chr4:132428913-132429074	SH-SY5Y	brain:	n/a	n/a
42	IRF4	chr4:132468658-132469238	GM12878	blood:	n/a	n/a
43	IRF4	chr4:132468660-132469308	GM12878	blood:	n/a	n/a
44	JUN	chr4:132446516-132446566	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUN	chr4:132427685-132427730	HepG2	liver:	n/a	chr4:132427692-132427705
46	JUN	chr4:132484045-132484152	K562	blood:	n/a	n/a
47	JUND	chr4:132427603-132427854	HepG2	liver:	n/a	n/a
48	JUND	chr4:132494908-132494924	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAFF	chr4:132452276-132452649	HepG2	liver:	n/a	chr4:132452459-132452477
50	MAFF	chr4:132473753-132474051	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-7	chr4:132449215-132449276	ENSG00000250102.1
2	lnc-PCDH10-7	chr4:132448385-132448443	NONHSAT098311
3	lnc-PCDH10-7	chr4:132444075-132444163	ENSG00000250102.1
4	lnc-PCDH10-7	chr4:132448385-132448443	ENSG00000250102.1
5	lnc-PCDH10-7	chr4:132449215-132449276	NONHSAT098311
6	lnc-PCDH10-17	chr4:132461436-132461644	NONHSAT098315
7	lnc-PCDH10-7	chr4:132448385-132448443	ENSG00000250102.1
8	lnc-PCDH10-7	chr4:132462296-132462552	ENSG00000250102.1

Variant related genes	Relation type
ENSG00000248715	TF binding region

Extended variants
information (count: 926 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537270013	chr4:132430439-132430440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541845525	chr4:132430444-132430445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140142778	chr4:132430526-132430527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574007544	chr4:132430531-132430532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565990207	chr4:132430592-132430593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536906564	chr4:132430599-132430600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80080304	chr4:132430611-132430612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145039969	chr4:132430661-132430662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144875356	chr4:132430662-132430663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11727012	chr4:132430691-132430692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149065403	chr4:132430706-132430707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186564381	chr4:132430721-132430722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190245090	chr4:132430726-132430727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142128743	chr4:132430758-132430759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529176701	chr4:132430765-132430766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549255845	chr4:132430781-132430782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151165413	chr4:132430798-132430799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528466380	chr4:132430812-132430813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551334302	chr4:132430867-132430868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571422892	chr4:132430872-132430873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537110418	chr4:132430917-132430918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550767523	chr4:132430960-132430961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562263591	chr4:132435432-132435433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184896316	chr4:132435551-132435552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191022665	chr4:132435634-132435635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568242371	chr4:132435635-132435636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55733408	chr4:132435663-132435664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs55680923	chr4:132435711-132435712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112234493	chr4:132435722-132435723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182731308	chr4:132435755-132435756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556565239	chr4:132435775-132435776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533167784	chr4:132435789-132435790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187330420	chr4:132435817-132435818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1511503	chr4:132435838-132435839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111291883	chr4:132435851-132435852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144105021	chr4:132435857-132435858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572587791	chr4:132435869-132435870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534502461	chr4:132435871-132435872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535018171	chr4:132435872-132435873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112364087	chr4:132435882-132435883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532266787	chr4:132435884-132435885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553182015	chr4:132435886-132435887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192061689	chr4:132435902-132435903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539766055	chr4:132435919-132435920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369769083	chr4:132435925-132435926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182945110	chr4:132435985-132435986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545409802	chr4:132436013-132436014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535305289	chr4:132436035-132436036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562458584	chr4:132436074-132436075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146478168	chr4:132436125-132436126	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132430400-132431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:132435400-132436200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:132435600-132436200	Enhancers	Dnd41	blood
4	chr4:132436200-132436600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:132436600-132437600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:132447600-132447800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:132447800-132452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:132449600-132450400	Enhancers	Dnd41	blood
9	chr4:132452400-132452800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:132452800-132456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:132453400-132453600	Enhancers	Fetal Kidney	kidney
12	chr4:132453600-132455600	Weak transcription	Fetal Kidney	kidney
13	chr4:132455600-132455800	Flanking Active TSS	Fetal Kidney	kidney
14	chr4:132455800-132456000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:132455800-132456000	Active TSS	Fetal Kidney	kidney
16	chr4:132456000-132456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:132456000-132456400	Flanking Active TSS	Fetal Kidney	kidney
18	chr4:132456000-132457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:132456400-132456600	Enhancers	Fetal Kidney	kidney
20	chr4:132457800-132459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:132468600-132471000	ZNF genes & repeats	GM12878-XiMat	blood
22	chr4:132471000-132472400	Weak transcription	GM12878-XiMat	blood
23	chr4:132472400-132472800	Enhancers	GM12878-XiMat	blood
24	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:132485400-132486000	Active TSS	Fetal Heart	heart
26	chr4:132487000-132487800	Enhancers	HMEC	breast
27	chr4:132487000-132488000	Enhancers	NHEK	skin
28	chr4:132487200-132487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:132487400-132487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:132487400-132488000	Enhancers	Pancreas	Pancrea
31	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:132488000-132488400	Weak transcription	Pancreas	Pancrea
33	chr4:132488400-132488800	Enhancers	Pancreas	Pancrea

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