Variant report

Variant	esv3394633
Chromosome Location	chr4:187352358-187358756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:187356907-187357919	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr4:187354074-187354310	GM12878	blood:	n/a	n/a
3	CBX3	chr4:187354461-187354780	K562	blood:	n/a	n/a
4	CTCF	chr4:187356940-187357090	GM12875	blood:	n/a	n/a
5	CTCF	chr4:187357404-187357499	GM12892	blood:	n/a	n/a
6	EP300	chr4:187356819-187357200	GM12878	blood:	n/a	n/a
7	EP300	chr4:187354028-187354714	GM12878	blood:	n/a	n/a
8	EP300	chr4:187356989-187357134	GM12878	blood:	n/a	n/a
9	FOSL2	chr4:187356105-187356646	HepG2	liver:	n/a	n/a
10	FOSL2	chr4:187354023-187354915	HepG2	liver:	n/a	n/a
11	FOSL2	chr4:187356815-187357295	HepG2	liver:	n/a	n/a
12	GABPA	chr4:187356330-187356558	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr4:187356819-187357288	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr4:187354078-187354721	GM12878	blood:	n/a	n/a
15	GABPA	chr4:187356867-187357217	GM12878	blood:	n/a	n/a
16	GABPA	chr4:187354037-187354736	Hela-S3	cervix:	n/a	n/a
17	IRF4	chr4:187356878-187357165	GM12878	blood:	n/a	n/a
18	IRF4	chr4:187356240-187356568	GM12878	blood:	n/a	n/a
19	IRF4	chr4:187356290-187356611	GM12878	blood:	n/a	n/a
20	IRF4	chr4:187353535-187354919	GM12878	blood:	n/a	n/a
21	IRF4	chr4:187356806-187357282	GM12878	blood:	n/a	n/a
22	MYC	chr4:187357606-187357835	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr4:187354132-187354338	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr4:187354577-187355022	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr4:187357387-187357605	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr4:187354434-187354572	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr4:187356835-187357109	H1-hESC	embryonic stem cell:	n/a	n/a
28	PAX5	chr4:187356240-187356641	GM12878	blood:	n/a	n/a
29	PAX5	chr4:187353759-187353939	GM12878	blood:	n/a	n/a
30	PAX5	chr4:187354463-187354680	GM12878	blood:	n/a	n/a
31	PAX5	chr4:187356047-187357623	GM12878	blood:	n/a	n/a
32	PAX5	chr4:187353921-187354938	GM12878	blood:	n/a	n/a
33	PAX5	chr4:187356418-187356632	GM12878	blood:	n/a	n/a
34	PAX5	chr4:187354998-187355324	GM12878	blood:	n/a	n/a
35	PAX5	chr4:187354055-187354760	GM12878	blood:	n/a	n/a
36	PAX5	chr4:187357285-187357610	GM12878	blood:	n/a	n/a
37	PAX5	chr4:187356842-187357225	GM12878	blood:	n/a	n/a
38	PAX5	chr4:187356969-187357162	GM12878	blood:	n/a	n/a
39	PAX5	chr4:187353433-187353752	GM12878	blood:	n/a	n/a
40	PAX5	chr4:187353419-187354032	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:187357745-187357751	Gliobla	brain:	n/a	n/a
42	POLR2A	chr4:187357619-187357794	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:187357544-187357565	Gliobla	brain:	n/a	n/a
44	POLR2A	chr4:187357729-187357734	Gliobla	brain:	n/a	n/a
45	POLR2A	chr4:187357515-187357535	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:187357003-187357185	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:187357612-187357681	Gliobla	brain:	n/a	n/a
48	POLR2A	chr4:187357689-187357723	Gliobla	brain:	n/a	n/a
49	POLR2A	chr4:187357515-187357536	Gliobla	brain:	n/a	n/a
50	POU2F2	chr4:187356817-187357251	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187357928-187357978	HL-60	blood:	n/a
2	chr4:187357928-187357978	AG09319	gingival:	n/a
3	chr4:187357928-187357978	H1-hESC	embryonic stem cell:	embryo
4	chr4:187357928-187357978	PANC-1	pancreas:	n/a
5	chr4:187357928-187357978	NHDF-neo	bronchial:	n/a
6	chr4:187357928-187357978	BE2_C	brain:	n/a
7	chr4:187357928-187357978	HCF	heart:	n/a
8	chr4:187357928-187357978	IMR90	lung:	fetal
9	chr4:187357928-187357978	MCF10A-Er-Src	breast:	n/a
10	chr4:187357928-187357978	HPAEpiC	pulmonary alveolar:	n/a
11	chr4:187357928-187357978	SK-N-SH	brain:	n/a
12	chr4:187357928-187357978	RPTEC	kidney:	n/a
13	chr4:187357928-187357978	HIPEpiC	eye:	n/a
14	chr4:187357928-187357978	SAEC	small airway:	n/a
15	chr4:187357928-187357978	ovcar-3	ovarian:	n/a
16	chr4:187357928-187357978	HRCEpiC	kidney:	n/a
17	chr4:187357928-187357978	CMK	blood:	n/a
18	chr4:187357928-187357978	Hepatocyte	liver:	n/a
19	chr4:187357928-187357978	A549	lung:	n/a
20	chr4:187357928-187357978	HRPEpiC	eye:	n/a
21	chr4:187357928-187357978	AoSMC	blood vessel:	n/a
22	chr4:187357928-187357978	T-47D	breast:	n/a
23	chr4:187357928-187357978	MCF-7	breast:	n/a
24	chr4:187357928-187357978	NHBE	bronchial:	n/a
25	chr4:187357928-187357978	NT2-D1	testis:	n/a
26	chr4:187357928-187357978	AG04450	lung:	fetal
27	chr4:187357928-187357978	HepG2	liver:	n/a
28	chr4:187357928-187357978	HEK293	kidney:	embryo
29	chr4:187357928-187357978	PFSK-1	brain:	n/a
30	chr4:187357928-187357978	ProgFib	skin:	n/a
31	chr4:187357928-187357978	Caco-2	colon:	n/a
32	chr4:187357928-187357978	AG10803	skin:	n/a
33	chr4:187357928-187357978	HRE	kidney:	n/a
34	chr4:187357928-187357978	Jurkat	blood:	n/a
35	chr4:187357928-187357978	GM19239	blood:	n/a
36	chr4:187357928-187357978	AG09309	skin:	n/a
37	chr4:187357928-187357978	GM12892	blood:	n/a
38	chr4:187357928-187357978	HAEpiC	amniotic membrane:	n/a
39	chr4:187357928-187357978	U87	brain:	n/a
40	chr4:187357928-187357978	PrEC	prostate:	n/a
41	chr4:187357928-187357978	NB4	blood:	n/a
42	chr4:187357928-187357978	ECC-1	luminal epithelium:	n/a
43	chr4:187357928-187357978	NH-A	brain:	n/a
44	chr4:187357928-187357978	HCM	heart:	n/a
45	chr4:187357928-187357978	BJ	skin:	n/a
46	chr4:187357928-187357978	GM06990	blood:	n/a
47	chr4:187357928-187357978	HCPEpiC	choroid plexus:	n/a
48	chr4:187357928-187357978	HCT-116	colon:	n/a
49	chr4:187357928-187357978	LNCaP	prostate:	n/a
50	chr4:187357928-187357978	K562	blood:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTNR1A-1	chr4:187353299-187353392	NONHSAT099658
2	lnc-MTNR1A-1	chr4:187352772-187352922	ENSG00000251165.1
3	lnc-MTNR1A-1	chr4:187352772-187352922	NONHSAT099658
4	lnc-MTNR1A-1	chr4:187353299-187353392	ENSG00000251165.1
5	lnc-MTNR1A-1	chr4:187352772-187352922	ENSG00000251165.1
6	lnc-MTNR1A-1	chr4:187353299-187353392	ENSG00000251165.1

No data

Variant related genes	Relation type
F11-AS1	TF binding region
F11-AS1	CpG island

Extended variants
information (count: 545 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550680734	chr4:187352363-187352364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561108688	chr4:187352369-187352370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530239556	chr4:187352433-187352434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367961476	chr4:187352442-187352443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149696969	chr4:187352471-187352472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114927707	chr4:187352513-187352514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115843332	chr4:187352516-187352517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552135356	chr4:187352520-187352521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377535349	chr4:187352525-187352526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145499363	chr4:187352537-187352538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4862694	chr4:187352573-187352574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs72714110	chr4:187352601-187352602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369460859	chr4:187352603-187352604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574646413	chr4:187352628-187352629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561301293	chr4:187352632-187352633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6824358	chr4:187352645-187352646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553732411	chr4:187352664-187352665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577059536	chr4:187352718-187352719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74753799	chr4:187352722-187352723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543574212	chr4:187352737-187352738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149193127	chr4:187352768-187352769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575561952	chr4:187352781-187352782	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs552385533	chr4:187352802-187352803	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs116220999	chr4:187352803-187352804	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs369288322	chr4:187352839-187352840	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs530177469	chr4:187352875-187352876	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs546780177	chr4:187352887-187352888	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs374599070	chr4:187352893-187352894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs532818750	chr4:187352895-187352896	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs570639960	chr4:187352901-187352902	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs143321499	chr4:187352902-187352903	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537851410	chr4:187352912-187352913	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs181279383	chr4:187352913-187352914	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs185159828	chr4:187352925-187352926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs70964954	chr4:187352977-187352978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568160094	chr4:187353022-187353023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28570336	chr4:187353031-187353032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553920681	chr4:187353037-187353038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370793512	chr4:187353063-187353064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570584996	chr4:187353074-187353075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58116685	chr4:187353080-187353081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114637040	chr4:187353085-187353086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369273634	chr4:187353089-187353090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374380871	chr4:187353101-187353102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6825341	chr4:187353113-187353114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139393496	chr4:187353130-187353131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67902527	chr4:187353133-187353134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28664079	chr4:187353144-187353145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs28672368	chr4:187353154-187353155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560708344	chr4:187353162-187353163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187347200-187353200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:187353200-187353400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:187353200-187354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:187354000-187354400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:187354000-187357000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:187354400-187357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:187357000-187357200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:187357000-187357800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:187357000-187357800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:187357000-187357800	ZNF genes & repeats	Gastric	stomach
11	chr4:187357600-187357800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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