Variant report

Variant	esv11025
Chromosome Location	chr4:132672400-132769811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:132755814-132756305	GM12878	blood:	n/a	n/a
2	BATF	chr4:132725694-132726042	GM12878	blood:	n/a	n/a
3	BATF	chr4:132758324-132758797	GM12878	blood:	n/a	n/a
4	BATF	chr4:132725785-132726083	GM12878	blood:	n/a	n/a
5	BATF	chr4:132756090-132756314	GM12878	blood:	n/a	n/a
6	BATF	chr4:132758273-132758804	GM12878	blood:	n/a	n/a
7	BATF	chr4:132740151-132740463	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:132725879-132726110	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:132753934-132754118	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:132755806-132756342	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:132756052-132756295	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:132758346-132758733	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:132740261-132740436	GM12878	blood:	n/a	n/a
14	CTCF	chr4:132740326-132740413	GM12878	blood:	n/a	n/a
15	CTCF	chr4:132740220-132740370	HepG2	liver:	n/a	n/a
16	CTCF	chr4:132740200-132740350	BE2_C	brain:	n/a	n/a
17	CTCF	chr4:132740180-132740330	GM12878	blood:	n/a	n/a
18	CTCF	chr4:132740304-132740504	GM12878	blood:	n/a	n/a
19	CTCF	chr4:132684958-132685024	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr4:132740334-132740412	Gliobla	brain:	n/a	n/a
21	CTCF	chr4:132718032-132718149	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr4:132727749-132727809	Medullo	brain:	n/a	n/a
23	CTCF	chr4:132680481-132680506	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr4:132740317-132740436	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:132693300-132693367	Lung_OC	lung:	n/a	n/a
26	CTCF	chr4:132734635-132734655	Medullo	brain:	n/a	n/a
27	CTCF	chr4:132740319-132740349	GM13977	blood:	n/a	n/a
28	CTCF	chr4:132750877-132750961	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr4:132694129-132694165	GM20000	blood:	n/a	n/a
30	CTCF	chr4:132766280-132766430	HCM	heart:	n/a	n/a
31	CTCF	chr4:132759902-132759937	GM20000	blood:	n/a	n/a
32	CTCF	chr4:132760059-132760096	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:132759940-132760090	HepG2	liver:	n/a	n/a
34	CTCF	chr4:132740307-132740430	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:132740334-132740417	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:132685297-132685357	LNCaP	prostate:	n/a	n/a
37	CTCF	chr4:132727228-132727256	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr4:132759920-132760070	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr4:132697034-132697131	GM10248	blood:	n/a	n/a
40	CTCF	chr4:132740295-132740442	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:132760063-132760163	GM10248	blood:	n/a	n/a
42	EBF1	chr4:132726582-132726830	GM12878	blood:	n/a	n/a
43	EBF1	chr4:132756118-132756340	GM12878	blood:	n/a	n/a
44	EBF1	chr4:132740248-132740451	GM12878	blood:	n/a	n/a
45	EP300	chr4:132749929-132750071	GM12878	blood:	n/a	n/a
46	EP300	chr4:132695427-132695985	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr4:132695549-132695979	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr4:132739563-132739811	GM12878	blood:	n/a	n/a
49	EP300	chr4:132720015-132720380	GM12878	blood:	n/a	n/a
50	EP300	chr4:132740119-132740367	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132677675-132677725	U87	brain:	n/a
2	chr4:132677681-132677731	RPTEC	kidney:	n/a
3	chr4:132686116-132686166	PFSK-1	brain:	n/a
4	chr4:132677681-132677731	Hepatocyte	liver:	n/a
5	chr4:132677681-132677731	HRCEpiC	kidney:	n/a
6	chr4:132683397-132683447	GM12892	blood:	n/a
7	chr4:132677675-132677725	ProgFib	skin:	n/a
8	chr4:132686116-132686166	T-47D	breast:	n/a
9	chr4:132686116-132686166	RPTEC	kidney:	n/a
10	chr4:132686909-132686959	RPTEC	kidney:	n/a
11	chr4:132686909-132686959	AoSMC	blood vessel:	n/a
12	chr4:132686116-132686166	HCM	heart:	n/a
13	chr4:132683397-132683447	MCF-7	breast:	n/a
14	chr4:132686909-132686959	LNCaP	prostate:	n/a
15	chr4:132684138-132684188	H1-hESC	embryonic stem cell:	embryo
16	chr4:132677675-132677725	GM19239	blood:	n/a
17	chr4:132677675-132677725	K562	blood:	n/a
18	chr4:132677675-132677725	MCF-7	breast:	n/a
19	chr4:132677675-132677725	NT2-D1	testis:	n/a
20	chr4:132683397-132683447	LNCaP	prostate:	n/a
21	chr4:132683397-132683447	PANC-1	pancreas:	n/a
22	chr4:132677675-132677725	NHDF-neo	bronchial:	n/a
23	chr4:132683397-132683447	HRCEpiC	kidney:	n/a
24	chr4:132686909-132686959	HRPEpiC	eye:	n/a
25	chr4:132677681-132677731	HCT-116	colon:	n/a
26	chr4:132677681-132677731	HEK293	kidney:	embryo
27	chr4:132684138-132684188	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:132677681-132677731	LNCaP	prostate:	n/a
29	chr4:132684138-132684188	ECC-1	luminal epithelium:	n/a
30	chr4:132677681-132677731	MCF-7	breast:	n/a
31	chr4:132684138-132684188	GM19239	blood:	n/a
32	chr4:132686909-132686959	SK-N-SH_RA	brain:	n/a
33	chr4:132683397-132683447	HAEpiC	amniotic membrane:	n/a
34	chr4:132686116-132686166	ovcar-3	ovarian:	n/a
35	chr4:132677675-132677725	BJ	skin:	n/a
36	chr4:132683397-132683447	ECC-1	luminal epithelium:	n/a
37	chr4:132686116-132686166	ECC-1	luminal epithelium:	n/a
38	chr4:132686909-132686959	Hela-S3	cervix:	n/a
39	chr4:132677675-132677725	SKMC	muscle:	n/a
40	chr4:132686116-132686166	MCF10A-Er-Src	breast:	n/a
41	chr4:132683397-132683447	HRPEpiC	eye:	n/a
42	chr4:132677675-132677725	HEK293	kidney:	embryo
43	chr4:132684138-132684188	AG09309	skin:	n/a
44	chr4:132683397-132683447	SKMC	muscle:	n/a
45	chr4:132683397-132683447	RPTEC	kidney:	n/a
46	chr4:132683397-132683447	BJ	skin:	n/a
47	chr4:132686116-132686166	PrEC	prostate:	n/a
48	chr4:132684138-132684188	BE2_C	brain:	n/a
49	chr4:132677675-132677725	HEEpiC	esophagus:	n/a
50	chr4:132677675-132677725	ECC-1	luminal epithelium:	n/a

No data

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-4	chr4:132694701-132694847	NONHSAT098323
2	lnc-PCDH10-4	chr4:132695748-132696191	XLOC_003690
3	lnc-PCDH10-14	chr4:132689388-132689733	NONHSAT098321
4	lnc-PCDH10-4	chr4:132694702-132694847	XLOC_003690
5	lnc-PCDH10-16	chr4:132678560-132678792	NONHSAT098318
6	lnc-PCDH10-4	chr4:132712365-132712637	XLOC_003690
7	lnc-PCDH10-4	chr4:132695748-132695847	XLOC_003690
8	lnc-PCDH10-4	chr4:132694720-132694847	XLOC_003690
9	lnc-PCDH10-4	chr4:132695620-132696191	NONHSAT098323
10	lnc-PCDH10-4	chr4:132695434-132695524	NONHSAT098323
11	lnc-PCDH10-4	chr4:132695435-132695524	XLOC_003690
12	lnc-PCDH10-4	chr4:132694457-132694847	XLOC_003690
13	lnc-PCDH10-16	chr4:132749772-132750082	NONHSAT098318
14	lnc-PCDH10-16	chr4:132751665-132751738	NONHSAT098318

No data

Variant related genes	Relation type
ENSG00000251676	TF binding region
ENSG00000249416	TF binding region
ENSG00000252014	TF binding region
ENSG00000251676	CpG island
ENSG00000249416	CpG island
ENSG00000252014	CpG island
MBNL1	miRNA target sites

Extended variants
information (count: 584 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367766221	chr4:132672439-132672440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62315428	chr4:132672485-132672486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201376835	chr4:132672548-132672549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148452061	chr4:132672557-132672558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559363744	chr4:132672599-132672600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369566374	chr4:132684992-132684993	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs577075701	chr4:132685308-132685309	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs377608782	chr4:132685320-132685321	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs201299721	chr4:132685331-132685332	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs545972830	chr4:132685340-132685341	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs3978043	chr4:132685341-132685342	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs562669135	chr4:132685344-132685345	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs531576928	chr4:132685345-132685346	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs548686975	chr4:132685351-132685352	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs375821443	chr4:132685361-132685362	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs28871141	chr4:132685362-132685363	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs62316366	chr4:132685367-132685368	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs547787272	chr4:132685373-132685374	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs571017602	chr4:132685388-132685389	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs539749023	chr4:132685394-132685395	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs550110718	chr4:132685402-132685403	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs188336454	chr4:132685404-132685405	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs367653267	chr4:132685407-132685408	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs535678494	chr4:132685409-132685410	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs554337095	chr4:132685410-132685411	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs568161504	chr4:132685412-132685413	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs193231464	chr4:132685418-132685419	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs3978044	chr4:132685420-132685421	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs542768035	chr4:132685427-132685428	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs553731312	chr4:132685441-132685442	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs576810900	chr4:132685443-132685444	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs546109453	chr4:132685446-132685447	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs556532506	chr4:132685452-132685453	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs576282411	chr4:132685454-132685455	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs373606898	chr4:132685461-132685462	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs542068671	chr4:132685462-132685463	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs562007970	chr4:132685465-132685466	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs527796580	chr4:132685467-132685468	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs543614455	chr4:132685473-132685474	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs541021798	chr4:132685478-132685479	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs367739195	chr4:132685485-132685486	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs2902511	chr4:132685497-132685498	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs2863596	chr4:132685513-132685514	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs28823681	chr4:132685514-132685515	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs3978045	chr4:132685515-132685516	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs533197310	chr4:132685521-132685522	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs550037117	chr4:132685524-132685525	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs570032833	chr4:132685529-132685530	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs529410746	chr4:132685535-132685536	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs549562436	chr4:132685547-132685548	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	19492091	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132671600-132672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:132671600-132672600	Weak transcription	Placenta	Placenta
3	chr4:132685800-132686200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:132694800-132696200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:132695200-132696000	Enhancers	NH-A	brain
6	chr4:132695200-132696200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:132695400-132695800	Enhancers	Fetal Stomach	stomach
8	chr4:132695400-132696000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:132695400-132696000	Enhancers	HMEC	breast
10	chr4:132695400-132696000	Enhancers	NHEK	skin
11	chr4:132695400-132696200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:132695400-132696200	Enhancers	NHDF-Ad	bronchial
13	chr4:132730800-132732600	Enhancers	Dnd41	blood
14	chr4:132731000-132732000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:132731200-132731800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:132731400-132732000	Enhancers	HMEC	breast
17	chr4:132731600-132732600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:132743000-132743600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:132743200-132743400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:132746000-132746200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:132746800-132747000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:132749800-132750200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:132750200-132750600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:132750600-132751000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:132755400-132756600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:132769200-132770200	Enhancers	Dnd41	blood

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