Variant report

Variant	esv989612
Chromosome Location	chr4:187350933-187357799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
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	chr4:187354028-187354714	GM12878	blood:	n/a	n/a
7	EP300	chr4:187356819-187357200	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	chr4:187356815-187357295	HepG2	liver:	n/a	n/a
11	FOSL2	chr4:187354023-187354915	HepG2	liver:	n/a	n/a
12	GABPA	chr4:187356819-187357288	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr4:187356867-187357217	GM12878	blood:	n/a	n/a
14	GABPA	chr4:187354078-187354721	GM12878	blood:	n/a	n/a
15	GABPA	chr4:187354037-187354736	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr4:187356330-187356558	Hela-S3	cervix:	n/a	n/a
17	IRF4	chr4:187356240-187356568	GM12878	blood:	n/a	n/a
18	IRF4	chr4:187353535-187354919	GM12878	blood:	n/a	n/a
19	IRF4	chr4:187356290-187356611	GM12878	blood:	n/a	n/a
20	IRF4	chr4:187356878-187357165	GM12878	blood:	n/a	n/a
21	IRF4	chr4:187356806-187357282	GM12878	blood:	n/a	n/a
22	MYC	chr4:187354577-187355022	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr4:187356835-187357109	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr4:187354132-187354338	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr4:187354434-187354572	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr4:187357387-187357605	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr4:187357606-187357835	H1-hESC	embryonic stem cell:	n/a	n/a
28	PAX5	chr4:187354998-187355324	GM12878	blood:	n/a	n/a
29	PAX5	chr4:187353921-187354938	GM12878	blood:	n/a	n/a
30	PAX5	chr4:187354055-187354760	GM12878	blood:	n/a	n/a
31	PAX5	chr4:187356240-187356641	GM12878	blood:	n/a	n/a
32	PAX5	chr4:187353433-187353752	GM12878	blood:	n/a	n/a
33	PAX5	chr4:187357285-187357610	GM12878	blood:	n/a	n/a
34	PAX5	chr4:187356842-187357225	GM12878	blood:	n/a	n/a
35	PAX5	chr4:187353419-187354032	GM12878	blood:	n/a	n/a
36	PAX5	chr4:187354463-187354680	GM12878	blood:	n/a	n/a
37	PAX5	chr4:187353759-187353939	GM12878	blood:	n/a	n/a
38	PAX5	chr4:187356047-187357623	GM12878	blood:	n/a	n/a
39	PAX5	chr4:187356418-187356632	GM12878	blood:	n/a	n/a
40	PAX5	chr4:187356969-187357162	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:187357689-187357723	Gliobla	brain:	n/a	n/a
42	POLR2A	chr4:187357515-187357535	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:187357544-187357565	Gliobla	brain:	n/a	n/a
44	POLR2A	chr4:187357619-187357794	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:187357745-187357751	Gliobla	brain:	n/a	n/a
46	POLR2A	chr4:187357612-187357681	Gliobla	brain:	n/a	n/a
47	POLR2A	chr4:187357515-187357536	Gliobla	brain:	n/a	n/a
48	POLR2A	chr4:187357729-187357734	Gliobla	brain:	n/a	n/a
49	POLR2A	chr4:187357003-187357185	GM12878	blood:	n/a	n/a
50	POU2F2	chr4:187356140-187356660	GM12878	blood:	n/a	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	ENSG00000251165.1
2	lnc-MTNR1A-1	chr4:187352772-187352922	NONHSAT099658
3	lnc-MTNR1A-1	chr4:187352772-187352922	ENSG00000251165.1
4	lnc-MTNR1A-1	chr4:187353299-187353392	NONHSAT099658
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

Extended variants
information (count: 624 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35957047	chr4:187350934-187350935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116087804	chr4:187350939-187350940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147455295	chr4:187350961-187350962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112700522	chr4:187350963-187350964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550870695	chr4:187351003-187351004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28428530	chr4:187351019-187351020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs71650634	chr4:187351030-187351031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6834152	chr4:187351031-187351032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377464672	chr4:187351062-187351063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368747905	chr4:187351129-187351130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535163202	chr4:187351138-187351139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558054751	chr4:187351163-187351164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142141778	chr4:187351197-187351198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183500715	chr4:187351212-187351213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34752178	chr4:187351217-187351218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557650308	chr4:187351229-187351230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371241577	chr4:187351233-187351234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188392019	chr4:187351242-187351243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558972918	chr4:187351249-187351250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12651207	chr4:187351270-187351271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28631257	chr4:187351273-187351274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377544917	chr4:187351303-187351304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564900487	chr4:187351306-187351307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193228421	chr4:187351340-187351341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530745917	chr4:187351368-187351369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547778757	chr4:187351412-187351413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57202526	chr4:187351444-187351445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1901316	chr4:187351491-187351492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549387836	chr4:187351501-187351502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184768156	chr4:187351514-187351515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528557744	chr4:187351541-187351542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551873761	chr4:187351560-187351561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386683511	chr4:187351564-187351565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386683512	chr4:187351565-187351566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1901315	chr4:187351566-187351567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186612010	chr4:187351569-187351570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567617425	chr4:187351622-187351623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536591726	chr4:187351652-187351653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191401931	chr4:187351679-187351680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571147431	chr4:187351701-187351702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572525474	chr4:187351720-187351721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544741914	chr4:187351728-187351729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558627104	chr4:187351753-187351754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575298072	chr4:187351757-187351758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6840417	chr4:187351774-187351775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111364870	chr4:187351789-187351790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6841087	chr4:187351790-187351791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183945761	chr4:187351821-187351822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375029437	chr4:187351828-187351829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528503239	chr4:187351843-187351844	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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