Variant report

Variant	esv1816271
Chromosome Location	chr4:132648501-132687177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:1833)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:132685297-132685357	LNCaP	prostate:	n/a	n/a
2	CTCF	chr4:132664464-132664625	LNCaP	prostate:	n/a	chr4:132664549-132664562
3	CTCF	chr4:132671870-132672056	LNCaP	prostate:	n/a	chr4:132671985-132671998
4	CTCF	chr4:132680481-132680506	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:132656337-132656391	LNCaP	prostate:	n/a	n/a
6	CTCF	chr4:132684958-132685024	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr4:132651343-132651348	GM10248	blood:	n/a	n/a
8	CTCF	chr4:132664482-132664598	LNCaP	prostate:	n/a	chr4:132664549-132664562
9	CTCF	chr4:132671917-132672049	LNCaP	prostate:	n/a	chr4:132671985-132671998
10	CTCF	chr4:132656263-132656342	GM10248	blood:	n/a	n/a
11	CTCF	chr4:132663911-132663984	GM12891	blood:	n/a	n/a
12	CTCF	chr4:132656296-132656315	LNCaP	prostate:	n/a	n/a
13	FOSL2	chr4:132671224-132671521	HepG2	liver:	n/a	n/a
14	FOSL2	chr4:132663766-132664083	HepG2	liver:	n/a	n/a
15	HEY1	chr4:132651079-132651270	K562	blood:	n/a	n/a
16	HEY1	chr4:132648601-132648997	K562	blood:	n/a	n/a
17	HEY1	chr4:132658465-132658706	HepG2	liver:	n/a	n/a
18	HEY1	chr4:132648681-132648865	K562	blood:	n/a	n/a
19	HEY1	chr4:132660960-132661201	HepG2	liver:	n/a	n/a
20	HEY1	chr4:132648596-132649072	HepG2	liver:	n/a	n/a
21	HEY1	chr4:132655977-132656218	HepG2	liver:	n/a	n/a
22	HEY1	chr4:132651064-132651326	HepG2	liver:	n/a	n/a
23	PAX5	chr4:132672241-132672412	GM12878	blood:	n/a	n/a
24	PAX5	chr4:132664805-132664976	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:132648555-132649091	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:132648694-132648833	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:132651174-132651284	A549	lung:	n/a	n/a
28	POLR2A	chr4:132658620-132658869	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:132648571-132648626	A549	lung:	n/a	n/a
30	POLR2A	chr4:132648692-132648829	A549	lung:	n/a	n/a
31	POLR2A	chr4:132653734-132653811	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:132663644-132663743	A549	lung:	n/a	n/a
33	POLR2A	chr4:132678391-132678446	A549	lung:	n/a	n/a
34	POLR2A	chr4:132656189-132656281	A549	lung:	n/a	n/a
35	POLR2A	chr4:132658677-132658754	A549	lung:	n/a	n/a
36	POLR2A	chr4:132670931-132670996	A549	lung:	n/a	n/a
37	POLR2A	chr4:132656178-132656277	A549	lung:	n/a	n/a
38	POLR2A	chr4:132668625-132668683	A549	lung:	n/a	n/a
39	POLR2A	chr4:132648650-132649120	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:132666152-132666210	A549	lung:	n/a	n/a
41	POLR2A	chr4:132651102-132651338	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:132651127-132651415	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr4:132651116-132651292	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:132653724-132653807	A549	lung:	n/a	n/a
45	POLR2A	chr4:132648603-132649153	GM12892	blood:	n/a	n/a
46	POLR2A	chr4:132648895-132648987	A549	lung:	n/a	n/a
47	POLR2A	chr4:132648692-132648849	A549	lung:	n/a	n/a
48	POLR2A	chr4:132658629-132658797	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:132673436-132673491	A549	lung:	n/a	n/a
50	POLR2A	chr4:132648535-132649106	A549	lung:	n/a	n/a

(count:1833 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132665367-132665417	HRPEpiC	eye:	n/a
2	chr4:132677675-132677725	GM12891	blood:	n/a
3	chr4:132653123-132653173	ProgFib	skin:	n/a
4	chr4:132665367-132665417	HRPEpiC	eye:	n/a
5	chr4:132677675-132677725	GM12891	blood:	n/a
6	chr4:132653123-132653173	ProgFib	skin:	n/a
7	chr4:132652001-132652051	HIPEpiC	eye:	n/a
8	chr4:132671417-132671467	ovcar-3	ovarian:	n/a
9	chr4:132649229-132649279	AG04450	lung:	fetal
10	chr4:132655659-132655709	LNCaP	prostate:	n/a
11	chr4:132654220-132654270	T-47D	breast:	n/a
12	chr4:132684138-132684188	ProgFib	skin:	n/a
13	chr4:132653123-132653173	BE2_C	brain:	n/a
14	chr4:132667632-132667682	SK-N-MC	brain:	n/a
15	chr4:132660385-132660435	GM12891	blood:	n/a
16	chr4:132654638-132654688	HEK293	kidney:	embryo
17	chr4:132655659-132655709	GM06990	blood:	n/a
18	chr4:132686116-132686166	SKMC	muscle:	n/a
19	chr4:132650897-132650947	Jurkat	blood:	n/a
20	chr4:132652001-132652051	BE2_C	brain:	n/a
21	chr4:132650897-132650947	HIPEpiC	eye:	n/a
22	chr4:132649479-132649529	HUVEC	blood vessel:	n/a
23	chr4:132667632-132667682	HCM	heart:	n/a
24	chr4:132671417-132671467	Caco-2	colon:	n/a
25	chr4:132661931-132661981	HepG2	liver:	n/a
26	chr4:132661961-132662011	SAEC	small airway:	n/a
27	chr4:132654638-132654688	HUVEC	blood vessel:	n/a
28	chr4:132650897-132650947	AoSMC	blood vessel:	n/a
29	chr4:132651902-132651952	AG04450	lung:	fetal
30	chr4:132667632-132667682	T-47D	breast:	n/a
31	chr4:132654638-132654688	Hela-S3	cervix:	n/a
32	chr4:132669467-132669517	ovcar-3	ovarian:	n/a
33	chr4:132652113-132652163	GM19239	blood:	n/a
34	chr4:132661931-132661981	PFSK-1	brain:	n/a
35	chr4:132669494-132669544	HRE	kidney:	n/a
36	chr4:132650897-132650947	HL-60	blood:	n/a
37	chr4:132686909-132686959	PANC-1	pancreas:	n/a
38	chr4:132660385-132660435	HRCEpiC	kidney:	n/a
39	chr4:132648785-132648835	AG04450	lung:	fetal
40	chr4:132649229-132649279	BE2_C	brain:	n/a
41	chr4:132684138-132684188	Caco-2	colon:	n/a
42	chr4:132654220-132654270	MCF10A-Er-Src	breast:	n/a
43	chr4:132654638-132654688	BE2_C	brain:	n/a
44	chr4:132654638-132654688	HMEC	breast:	n/a
45	chr4:132661961-132662011	AG09319	gingival:	n/a
46	chr4:132649229-132649279	NHDF-neo	bronchial:	n/a
47	chr4:132683397-132683447	HUVEC	blood vessel:	n/a
48	chr4:132648785-132648835	NH-A	brain:	n/a
49	chr4:132650897-132650947	HCF	heart:	n/a
50	chr4:132653123-132653173	SK-N-SH	brain:	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: 705 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568845306	chr4:132648511-132648512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370058793	chr4:132648534-132648535	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374792763	chr4:132648550-132648551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537575890	chr4:132648564-132648565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190114911	chr4:132648575-132648576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567730983	chr4:132648576-132648577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533793675	chr4:132648578-132648579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553653169	chr4:132648584-132648585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577114967	chr4:132648588-132648589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539245633	chr4:132648606-132648607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79944071	chr4:132648608-132648609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371027682	chr4:132648609-132648610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576431632	chr4:132648620-132648621	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575488949	chr4:132648623-132648624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375571295	chr4:132648628-132648629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542360443	chr4:132648631-132648632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147093572	chr4:132648646-132648647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181675128	chr4:132648650-132648651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185524841	chr4:132648652-132648653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs76809912	chr4:132648659-132648660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533716639	chr4:132648660-132648661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181407931	chr4:132648665-132648666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs367721149	chr4:132648666-132648667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76729793	chr4:132648672-132648673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138449305	chr4:132648674-132648675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369209313	chr4:132648675-132648676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547408297	chr4:132648676-132648677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570638502	chr4:132648677-132648678	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79744965	chr4:132648687-132648688	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539743259	chr4:132648708-132648709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111860928	chr4:132648726-132648727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556051840	chr4:132648730-132648731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs62317451	chr4:132648735-132648736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs62317452	chr4:132648737-132648738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144104718	chr4:132648748-132648749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535904987	chr4:132648749-132648750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555896153	chr4:132648754-132648755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183993543	chr4:132648755-132648756	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187236961	chr4:132648761-132648762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112071131	chr4:132648763-132648764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558163525	chr4:132648770-132648771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191718164	chr4:132648778-132648779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200655903	chr4:132648783-132648784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs578165230	chr4:132648785-132648786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs544109983	chr4:132648789-132648790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182889046	chr4:132648798-132648799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs529446187	chr4:132648808-132648809	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561438246	chr4:132648814-132648815	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs146876085	chr4:132648815-132648816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs202041929	chr4:132648818-132648819	Active TSS	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132648200-132649200	Active TSS	HMEC	breast
2	chr4:132650400-132650600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:132663800-132664000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr4:132663800-132664000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:132663800-132664000	ZNF genes & repeats	Dnd41	blood
6	chr4:132663800-132664800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:132663800-132664800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:132664000-132664400	Weak transcription	Dnd41	blood
9	chr4:132664400-132664800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:132664600-132664800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr4:132664600-132664800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:132664800-132671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:132664800-132671200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:132664800-132671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:132664800-132671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:132664800-132671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:132671200-132671600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:132671200-132671600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr4:132671200-132671600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:132671200-132671600	ZNF genes & repeats	Placenta	Placenta
21	chr4:132671200-132671800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:132671200-132672000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:132671600-132672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:132671600-132672600	Weak transcription	Placenta	Placenta
25	chr4:132685800-132686200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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