Variant report

Variant	esv1811694
Chromosome Location	chr4:132460604-132494669
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	chr4:132469892-132470158	GM12878	blood:	n/a	chr4:132470014-132470025 chr4:132469980-132469991
3	BATF	chr4:132468793-132469303	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:132468778-132469283	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:132469009-132469193	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	chr4:132464778-132465054	HepG2	liver:	n/a	chr4:132464923-132464934
9	CEBPB	chr4:132466384-132466785	IMR90	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
10	CEBPB	chr4:132466435-132466751	A549	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
11	CEBPB	chr4:132466355-132466748	HepG2	liver:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
12	CEBPB	chr4:132464782-132465069	IMR90	lung:	n/a	chr4:132464923-132464934
13	CTCF	chr4:132471808-132471857	Medullo	brain:	n/a	n/a
14	CTCF	chr4:132461480-132461630	MCF-7	breast:	n/a	n/a
15	E2F4	chr4:132464922-132465333	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr4:132468895-132469313	GM12878	blood:	n/a	n/a
17	EP300	chr4:132465925-132466351	SK-N-SH_RA	brain:	n/a	chr4:132465987-132465996
18	EP300	chr4:132468722-132469016	GM12878	blood:	n/a	n/a
19	EP300	chr4:132468844-132468994	GM12878	blood:	n/a	n/a
20	EP300	chr4:132465929-132466291	SK-N-SH_RA	brain:	n/a	chr4:132465987-132465996
21	FOS	chr4:132487200-132487531	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
22	FOS	chr4:132487246-132487452	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
23	FOS	chr4:132487094-132487531	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
24	FOS	chr4:132487198-132487531	MCF10A-Er-Src	breast:	n/a	chr4:132487362-132487370
25	FOSL2	chr4:132469876-132470130	HepG2	liver:	n/a	n/a
26	FOXM1	chr4:132468729-132469235	GM12878	blood:	n/a	n/a
27	FOXM1	chr4:132468685-132469143	GM12878	blood:	n/a	n/a
28	IRF4	chr4:132468660-132469308	GM12878	blood:	n/a	n/a
29	IRF4	chr4:132468658-132469238	GM12878	blood:	n/a	n/a
30	JUN	chr4:132484045-132484152	K562	blood:	n/a	n/a
31	MAFF	chr4:132473753-132474051	HepG2	liver:	n/a	n/a
32	MAFK	chr4:132473755-132474051	HepG2	liver:	n/a	n/a
33	MAFK	chr4:132476700-132476957	HepG2	liver:	n/a	n/a
34	MAFK	chr4:132467499-132467699	HepG2	liver:	n/a	n/a
35	MAFK	chr4:132467457-132467583	HepG2	liver:	n/a	n/a
36	MAFK	chr4:132462012-132462238	HepG2	liver:	n/a	chr4:132462138-132462147 chr4:132462138-132462148
37	MAFK	chr4:132487997-132488191	HepG2	liver:	n/a	n/a
38	MAFK	chr4:132481546-132481581	HepG2	liver:	n/a	chr4:132481553-132481573 chr4:132481555-132481571
39	MAFK	chr4:132473768-132474011	HepG2	liver:	n/a	n/a
40	MAX	chr4:132468917-132468955	GM12878	blood:	n/a	n/a
41	MEF2A	chr4:132468629-132469198	GM12878	blood:	n/a	n/a
42	MTA3	chr4:132468596-132469225	GM12878	blood:	n/a	n/a
43	MXI1	chr4:132468798-132468841	GM12878	blood:	n/a	n/a
44	NFIC	chr4:132468478-132469226	GM12878	blood:	n/a	n/a
45	NFIC	chr4:132468738-132469387	GM12878	blood:	n/a	n/a
46	NFYA	chr4:132472627-132472925	GM12878	blood:	n/a	n/a
47	NRF1	chr4:132493998-132494097	GM12878	blood:	n/a	n/a
48	NRF1	chr4:132487222-132487226	H1-hESC	embryonic stem cell:	n/a	n/a
49	PAX5	chr4:132468916-132469293	GM12878	blood:	n/a	n/a
50	PAX5	chr4:132468877-132469267	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-17	chr4:132461436-132461644	NONHSAT098315
2	lnc-PCDH10-7	chr4:132462296-132462552	ENSG00000250102.1

Variant related genes	Relation type
ENSG00000248715	TF binding region

Extended variants
information (count: 465 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17051219	chr4:132461437-132461438	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567671350	chr4:132461464-132461465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371342221	chr4:132461492-132461493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs151274630	chr4:132461550-132461551	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs553439460	chr4:132461557-132461558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs556661525	chr4:132462321-132462322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs529773233	chr4:132462415-132462416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs546673600	chr4:132462418-132462419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs74651404	chr4:132462438-132462439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs539117444	chr4:132462468-132462469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs559222833	chr4:132462490-132462491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs373970064	chr4:132462499-132462500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs114228226	chr4:132462530-132462531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs542448698	chr4:132468616-132468617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554255692	chr4:132468631-132468632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559101018	chr4:132468696-132468697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528243823	chr4:132468703-132468704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149883794	chr4:132468707-132468708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571413208	chr4:132468747-132468748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs147569566	chr4:132468785-132468786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62318266	chr4:132468788-132468789	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567779175	chr4:132468839-132468840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536720507	chr4:132468951-132468952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553473341	chr4:132468976-132468977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184867663	chr4:132469027-132469028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567084548	chr4:132469050-132469051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189753600	chr4:132469068-132469069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs350999	chr4:132469072-132469073	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191363156	chr4:132469110-132469111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs141944624	chr4:132469127-132469128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556667658	chr4:132469128-132469129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183876398	chr4:132469138-132469139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542336558	chr4:132469166-132469167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558991799	chr4:132469184-132469185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75350107	chr4:132469210-132469211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546988348	chr4:132469227-132469228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544760601	chr4:132469244-132469245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565232556	chr4:132469259-132469260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530708693	chr4:132469293-132469294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145903345	chr4:132469295-132469296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567570399	chr4:132469302-132469303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530078870	chr4:132469316-132469317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs138718820	chr4:132469328-132469329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148876861	chr4:132469331-132469332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143528169	chr4:132469436-132469437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189333124	chr4:132469448-132469449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs377037521	chr4:132469482-132469483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs529290705	chr4:132469552-132469553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs41467353	chr4:132469561-132469562	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34004732	chr4:132469569-132469570	ZNF genes & repeats	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132468600-132471000	ZNF genes & repeats	GM12878-XiMat	blood
2	chr4:132471000-132472400	Weak transcription	GM12878-XiMat	blood
3	chr4:132472400-132472800	Enhancers	GM12878-XiMat	blood
4	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:132485400-132486000	Active TSS	Fetal Heart	heart
6	chr4:132487000-132487800	Enhancers	HMEC	breast
7	chr4:132487000-132488000	Enhancers	NHEK	skin
8	chr4:132487200-132487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:132487400-132487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:132487400-132488000	Enhancers	Pancreas	Pancrea
11	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:132488000-132488400	Weak transcription	Pancreas	Pancrea
13	chr4:132488400-132488800	Enhancers	Pancreas	Pancrea

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