Variant report

Variant	esv3401997
Chromosome Location	chr4:132653602-132686800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:1220)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:132671917-132672049	LNCaP	prostate:	n/a	chr4:132671985-132671998
2	CTCF	chr4:132663911-132663984	GM12891	blood:	n/a	n/a
3	CTCF	chr4:132684958-132685024	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr4:132671870-132672056	LNCaP	prostate:	n/a	chr4:132671985-132671998
5	CTCF	chr4:132656263-132656342	GM10248	blood:	n/a	n/a
6	CTCF	chr4:132685297-132685357	LNCaP	prostate:	n/a	n/a
7	CTCF	chr4:132656337-132656391	LNCaP	prostate:	n/a	n/a
8	CTCF	chr4:132664464-132664625	LNCaP	prostate:	n/a	chr4:132664549-132664562
9	CTCF	chr4:132680481-132680506	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr4:132656296-132656315	LNCaP	prostate:	n/a	n/a
11	CTCF	chr4:132664482-132664598	LNCaP	prostate:	n/a	chr4:132664549-132664562
12	FOSL2	chr4:132671224-132671521	HepG2	liver:	n/a	n/a
13	FOSL2	chr4:132663766-132664083	HepG2	liver:	n/a	n/a
14	HEY1	chr4:132658465-132658706	HepG2	liver:	n/a	n/a
15	HEY1	chr4:132655977-132656218	HepG2	liver:	n/a	n/a
16	HEY1	chr4:132660960-132661201	HepG2	liver:	n/a	n/a
17	PAX5	chr4:132672241-132672412	GM12878	blood:	n/a	n/a
18	PAX5	chr4:132664805-132664976	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:132658620-132658869	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:132656157-132656320	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:132658677-132658754	A549	lung:	n/a	n/a
22	POLR2A	chr4:132668625-132668683	A549	lung:	n/a	n/a
23	POLR2A	chr4:132653716-132653809	A549	lung:	n/a	n/a
24	POLR2A	chr4:132658629-132658797	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:132656037-132656092	A549	lung:	n/a	n/a
26	POLR2A	chr4:132653734-132653811	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:132653841-132654069	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:132653736-132653837	A549	lung:	n/a	n/a
29	POLR2A	chr4:132656178-132656277	A549	lung:	n/a	n/a
30	POLR2A	chr4:132653724-132653807	A549	lung:	n/a	n/a
31	POLR2A	chr4:132673436-132673491	A549	lung:	n/a	n/a
32	POLR2A	chr4:132671368-132671546	K562	blood:	n/a	n/a
33	POLR2A	chr4:132671431-132671635	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:132678391-132678446	A549	lung:	n/a	n/a
35	POLR2A	chr4:132658666-132658765	A549	lung:	n/a	n/a
36	POLR2A	chr4:132668614-132668696	A549	lung:	n/a	n/a
37	POLR2A	chr4:132663611-132663772	HepG2	liver:	n/a	n/a
38	POLR2A	chr4:132656189-132656281	A549	lung:	n/a	n/a
39	POLR2A	chr4:132661172-132661230	A549	lung:	n/a	n/a
40	POLR2A	chr4:132666152-132666210	A549	lung:	n/a	n/a
41	POLR2A	chr4:132663655-132663732	A549	lung:	n/a	n/a
42	POLR2A	chr4:132670931-132670996	A549	lung:	n/a	n/a
43	POLR2A	chr4:132653692-132653835	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:132663644-132663743	A549	lung:	n/a	n/a
45	POU2F2	chr4:132671223-132671593	GM12878	blood:	n/a	n/a
46	POU2F2	chr4:132656142-132656729	GM12891	blood:	n/a	n/a
47	POU2F2	chr4:132671094-132672047	GM12891	blood:	n/a	n/a
48	POU2F2	chr4:132663733-132665020	GM12891	blood:	n/a	n/a
49	REST	chr4:132685322-132685644	PANC-1	pancreas:	n/a	n/a
50	REST	chr4:132663125-132663325	PANC-1	pancreas:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132654638-132654688	HEK293	kidney:	embryo
2	chr4:132655659-132655709	HEK293	kidney:	embryo
3	chr4:132677681-132677731	HCF	heart:	n/a
4	chr4:132661931-132661981	MCF-7	breast:	n/a
5	chr4:132661961-132662011	NB4	blood:	n/a
6	chr4:132686116-132686166	NH-A	brain:	n/a
7	chr4:132663979-132664029	GM12891	blood:	n/a
8	chr4:132677675-132677725	CMK	blood:	n/a
9	chr4:132660385-132660435	MCF-7	breast:	n/a
10	chr4:132667632-132667682	PFSK-1	brain:	n/a
11	chr4:132669467-132669517	H1-hESC	embryonic stem cell:	embryo
12	chr4:132684138-132684188	ovcar-3	ovarian:	n/a
13	chr4:132654638-132654688	IMR90	lung:	fetal
14	chr4:132655659-132655709	AG04450	lung:	fetal
15	chr4:132671417-132671467	AG09319	gingival:	n/a
16	chr4:132669467-132669517	CMK	blood:	n/a
17	chr4:132663979-132664029	K562	blood:	n/a
18	chr4:132686116-132686166	SAEC	small airway:	n/a
19	chr4:132654220-132654270	HepG2	liver:	n/a
20	chr4:132671417-132671467	Hepatocyte	liver:	n/a
21	chr4:132665367-132665417	AoSMC	blood vessel:	n/a
22	chr4:132671417-132671467	PANC-1	pancreas:	n/a
23	chr4:132661931-132661981	HRE	kidney:	n/a
24	chr4:132683397-132683447	SK-N-SH_RA	brain:	n/a
25	chr4:132677681-132677731	HIPEpiC	eye:	n/a
26	chr4:132677675-132677725	HPAEpiC	pulmonary alveolar:	n/a
27	chr4:132686116-132686166	RPTEC	kidney:	n/a
28	chr4:132660385-132660435	ECC-1	luminal epithelium:	n/a
29	chr4:132666925-132666975	ovcar-3	ovarian:	n/a
30	chr4:132671715-132671765	NHBE	bronchial:	n/a
31	chr4:132677681-132677731	ProgFib	skin:	n/a
32	chr4:132665367-132665417	U87	brain:	n/a
33	chr4:132677681-132677731	NT2-D1	testis:	n/a
34	chr4:132654638-132654688	T-47D	breast:	n/a
35	chr4:132661931-132661981	HCPEpiC	choroid plexus:	n/a
36	chr4:132667632-132667682	AG09309	skin:	n/a
37	chr4:132660385-132660435	NB4	blood:	n/a
38	chr4:132669494-132669544	RPTEC	kidney:	n/a
39	chr4:132663979-132664029	PrEC	prostate:	n/a
40	chr4:132666907-132666957	PANC-1	pancreas:	n/a
41	chr4:132686116-132686166	GM12892	blood:	n/a
42	chr4:132665367-132665417	AG10803	skin:	n/a
43	chr4:132684138-132684188	PFSK-1	brain:	n/a
44	chr4:132654220-132654270	AG10803	skin:	n/a
45	chr4:132660385-132660435	RPTEC	kidney:	n/a
46	chr4:132654220-132654270	SK-N-SH_RA	brain:	n/a
47	chr4:132669467-132669517	GM06990	blood:	n/a
48	chr4:132684138-132684188	HRPEpiC	eye:	n/a
49	chr4:132666907-132666957	AG10803	skin:	n/a
50	chr4:132669494-132669544	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-16	chr4:132678560-132678792	NONHSAT098318

No data

Variant related genes	Relation type
ENSG00000249416	TF binding region
ENSG00000252014	TF binding region
ENSG00000249416	CpG island
ENSG00000252014	CpG island

Extended variants
information (count: 552 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:552 , 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	rs371523921	chr4:132663814-132663815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs562613494	chr4:132663817-132663818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559504546	chr4:132663823-132663824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191384228	chr4:132663825-132663826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs4864071	chr4:132663827-132663828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs542005288	chr4:132663832-132663833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111878639	chr4:132663845-132663846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4864070	chr4:132663856-132663857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527532790	chr4:132663858-132663859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs199895516	chr4:132663880-132663881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs55648540	chr4:132663895-132663896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs56272724	chr4:132663897-132663898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113704279	chr4:132663908-132663909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376371077	chr4:132663948-132663949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs4864069	chr4:132663953-132663954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372471922	chr4:132663968-132663969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs376606428	chr4:132663976-132663977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533154705	chr4:132663981-132663982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200478836	chr4:132664021-132664022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77847966	chr4:132664064-132664065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201502191	chr4:132664100-132664101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533692991	chr4:132664101-132664102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368223637	chr4:132664122-132664123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550162441	chr4:132664123-132664124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202073238	chr4:132664143-132664144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372727128	chr4:132664155-132664156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569972514	chr4:132664159-132664160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374643934	chr4:132664203-132664204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75779011	chr4:132664207-132664208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62315404	chr4:132664218-132664219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4864068	chr4:132664246-132664247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4864067	chr4:132664249-132664250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368473472	chr4:132664272-132664273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201427192	chr4:132664284-132664285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374309378	chr4:132664285-132664286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149666453	chr4:132664330-132664331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144801284	chr4:132664331-132664332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553563622	chr4:132664337-132664338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576892407	chr4:132664364-132664365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539030755	chr4:132664366-132664367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368206957	chr4:132664370-132664371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372122552	chr4:132664385-132664386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62315405	chr4:132664390-132664391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556134750	chr4:132664401-132664402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368391013	chr4:132664402-132664403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62315406	chr4:132664422-132664423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375517153	chr4:132664425-132664426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368369566	chr4:132664444-132664445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542142477	chr4:132664453-132664454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562006764	chr4:132664468-132664469	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
Autism	19492091	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132663800-132664000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr4:132663800-132664000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:132663800-132664000	ZNF genes & repeats	Dnd41	blood
4	chr4:132663800-132664800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:132663800-132664800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:132664000-132664400	Weak transcription	Dnd41	blood
7	chr4:132664400-132664800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:132664600-132664800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr4:132664600-132664800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:132664800-132671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:132664800-132671200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:132664800-132671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:132664800-132671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:132664800-132671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:132671200-132671600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:132671200-132671600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr4:132671200-132671600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:132671200-132671600	ZNF genes & repeats	Placenta	Placenta
19	chr4:132671200-132671800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:132671200-132672000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:132671600-132672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:132671600-132672600	Weak transcription	Placenta	Placenta
23	chr4:132685800-132686200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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