Variant report

Variant	esv3438757
Chromosome Location	chr1:154267776-154270120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:154268110-154268596	HCT-116	colon:	n/a	n/a
2	CBX3	chr1:154268098-154268581	HCT-116	colon:	n/a	n/a
3	CBX3	chr1:154267864-154268538	K562	blood:	n/a	n/a
4	CBX3	chr1:154267818-154268547	K562	blood:	n/a	n/a
5	EGR1	chr1:154268177-154268374	K562	blood:	n/a	n/a
6	EGR1	chr1:154268139-154268388	K562	blood:	n/a	n/a
7	EP300	chr1:154268150-154268432	K562	blood:	n/a	n/a
8	IRF1	chr1:154268157-154268458	K562	blood:	n/a	n/a
9	JUN	chr1:154268109-154268475	K562	blood:	n/a	n/a
10	KAP1	chr1:154267994-154268501	U2OS	brain:	n/a	n/a
11	KAP1	chr1:154267921-154268535	HEK293	kidney:	n/a	n/a
12	KAP1	chr1:154267695-154268550	K562	blood:	n/a	n/a
13	MAZ	chr1:154268150-154268350	K562	blood:	n/a	n/a
14	MEF2A	chr1:154268052-154268443	K562	blood:	n/a	chr1:154268110-154268125 chr1:154268106-154268127 chr1:154268108-154268129 chr1:154268112-154268123 chr1:154268109-154268126 chr1:154268109-154268125 chr1:154268113-154268122
15	MEF2A	chr1:154268119-154268416	K562	blood:	n/a	n/a
16	RCOR1	chr1:154268153-154268608	IMR90	lung:	n/a	n/a
17	RCOR1	chr1:154268153-154268441	K562	blood:	n/a	n/a
18	SETDB1	chr1:154267795-154268550	U2OS	brain:	n/a	n/a
19	SETDB1	chr1:154267903-154268540	K562	blood:	n/a	n/a
20	TAL1	chr1:154268303-154268304	K562	blood:	n/a	n/a
21	TBL1XR1	chr1:154268173-154268455	K562	blood:	n/a	n/a
22	TCF12	chr1:154267944-154268520	A549	lung:	n/a	n/a
23	TEAD4	chr1:154268086-154268471	K562	blood:	n/a	n/a
24	TEAD4	chr1:154268103-154268489	K562	blood:	n/a	n/a
25	TRIM28	chr1:154268086-154268476	K562	blood:	n/a	n/a
26	TRIM28	chr1:154267986-154268579	K562	blood:	n/a	n/a
27	UBTF	chr1:154268191-154268469	K562	blood:	n/a	n/a
28	USF1	chr1:154268084-154268403	A549	lung:	n/a	n/a
29	USF1	chr1:154268146-154268397	A549	lung:	n/a	n/a
30	USF1	chr1:154268151-154268550	HCT-116	colon:	n/a	n/a
31	USF1	chr1:154268103-154268491	A549	lung:	n/a	n/a
32	USF1	chr1:154268195-154268506	ECC-1	luminal epithelium:	n/a	n/a
33	USF1	chr1:154268066-154268449	K562	blood:	n/a	n/a
34	USF1	chr1:154268123-154268403	SK-N-SH	brain:	n/a	n/a
35	YY1	chr1:154268158-154268377	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr1:154268137-154268451	GM12878	blood:	n/a	n/a
37	YY1	chr1:154268139-154268441	HCT-116	colon:	n/a	n/a
38	YY1	chr1:154268124-154268420	SK-N-SH_RA	brain:	n/a	n/a
39	YY1	chr1:154268139-154268406	SK-N-SH_RA	brain:	n/a	n/a
40	YY1	chr1:154268189-154268330	HCT-116	colon:	n/a	n/a
41	YY1	chr1:154268202-154268438	K562	blood:	n/a	n/a
42	YY1	chr1:154268094-154268405	GM12892	blood:	n/a	n/a
43	ZMIZ1	chr1:154268160-154268420	K562	blood:	n/a	n/a
44	ZNF143	chr1:154268117-154268467	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF143	chr1:154268140-154268458	Hela-S3	cervix:	n/a	n/a
46	ZNF143	chr1:154268117-154268468	GM12878	blood:	n/a	n/a
47	ZNF143	chr1:154268095-154268482	K562	blood:	n/a	n/a
48	ZNF384	chr1:154268125-154268445	K562	blood:	n/a	chr1:154268159-154268167

Variant related genes	Relation type
RNU6-121P	TF binding region
RNU6-239P	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553675306	chr1:154267779-154267780	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs570175524	chr1:154267783-154267784	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs545780084	chr1:154267815-154267816	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs564363221	chr1:154267829-154267830	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs201547941	chr1:154267831-154267832	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs386635633	chr1:154267833-154267834	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs113898219	chr1:154267834-154267835	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs150769991	chr1:154267846-154267847	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs529399583	chr1:154267907-154267908	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs200484017	chr1:154267920-154267921	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs67050019	chr1:154267953-154267954	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559696093	chr1:154267958-154267959	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs73020678	chr1:154268003-154268004	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149524318	chr1:154268081-154268082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570299697	chr1:154268087-154268088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs537474995	chr1:154268098-154268099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374951937	chr1:154268114-154268115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144167234	chr1:154268198-154268199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs190818534	chr1:154268251-154268252	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182451715	chr1:154268260-154268261	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553780429	chr1:154268283-154268284	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572154371	chr1:154268314-154268315	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs185311252	chr1:154268359-154268360	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77866780	chr1:154268391-154268392	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576391067	chr1:154268392-154268393	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1685627	chr1:154268452-154268453	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs562063228	chr1:154268474-154268475	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557440572	chr1:154268485-154268486	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs55968864	chr1:154268491-154268492	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371500467	chr1:154268521-154268522	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201374622	chr1:154268549-154268550	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574063113	chr1:154268568-154268569	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559765146	chr1:154268569-154268570	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs139835517	chr1:154268575-154268576	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs191155796	chr1:154268585-154268586	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563860755	chr1:154268586-154268587	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531098448	chr1:154268588-154268589	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154268200-154268600	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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