Variant report

Variant	nsv160554
Chromosome Location	chr1:154511036-154512983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:154511183-154511378	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:154511195-154511361	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:154511172-154511390	K562	blood:	n/a	n/a
4	CTCF	chr1:154512806-154512870	Kidney_OC	kidney:	n/a	n/a
5	EP300	chr1:154511957-154512437	T-47D	breast:	n/a	n/a
6	FOXA1	chr1:154512016-154512382	T-47D	breast:	n/a	n/a
7	FOXA1	chr1:154511926-154512448	T-47D	breast:	n/a	n/a
8	FOXA1	chr1:154511954-154512377	HepG2	liver:	n/a	n/a
9	FOXA2	chr1:154512074-154512295	HepG2	liver:	n/a	n/a
10	GATA3	chr1:154511966-154512413	T-47D	breast:	n/a	n/a
11	GATA3	chr1:154511972-154512462	T-47D	breast:	n/a	n/a
12	POLR2A	chr1:154511169-154511311	K562	blood:	n/a	n/a
13	REST	chr1:154511787-154511922	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr1:154511761-154512045	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154511865..154514048-chr1:154515510..154518337,2	K562	blood:
2	chr1:154508615..154511081-chr1:154512298..154516089,3	K562	blood:
3	chr1:154512152..154513982-chr1:154532786..154534564,2	K562	blood:

No data

Variant related genes	Relation type
TDRD10	TF binding region
ENSG00000163239	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555868408	chr1:154511046-154511047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs59257227	chr1:154511047-154511048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577717721	chr1:154511057-154511058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545285847	chr1:154511067-154511068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373577220	chr1:154511068-154511069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563616750	chr1:154511069-154511070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186404973	chr1:154511100-154511101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549143577	chr1:154511105-154511106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567825476	chr1:154511109-154511110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190756951	chr1:154511128-154511129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113854199	chr1:154511146-154511147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528558987	chr1:154511185-154511186	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11265631	chr1:154511191-154511192	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183760153	chr1:154511229-154511230	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538662957	chr1:154511291-154511292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188189706	chr1:154511316-154511317	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569513068	chr1:154511329-154511330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs367849591	chr1:154511333-154511334	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs536578631	chr1:154511334-154511335	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148179718	chr1:154511365-154511366	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573524063	chr1:154511366-154511367	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141604533	chr1:154511397-154511398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376172067	chr1:154511461-154511462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142038703	chr1:154511500-154511501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12136771	chr1:154511502-154511503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs75323106	chr1:154511504-154511505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577680651	chr1:154511569-154511570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545012333	chr1:154511572-154511573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563169887	chr1:154511580-154511581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555411633	chr1:154511604-154511605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377116674	chr1:154511605-154511606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138427579	chr1:154511639-154511640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542599823	chr1:154511707-154511708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57783436	chr1:154511709-154511710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs545052311	chr1:154511753-154511754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528279534	chr1:154511785-154511786	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142739387	chr1:154511862-154511863	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565059154	chr1:154511865-154511866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532499635	chr1:154511866-154511867	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs550938168	chr1:154511872-154511873	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569197699	chr1:154511882-154511883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs183194308	chr1:154511897-154511898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548606219	chr1:154511927-154511928	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539384449	chr1:154511929-154511930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534411737	chr1:154511951-154511952	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112394421	chr1:154512008-154512009	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
47	rs571347888	chr1:154512068-154512069	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs73023346	chr1:154512077-154512078	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs556909971	chr1:154512139-154512140	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575131860	chr1:154512156-154512157	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154492800-154521400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:154494800-154512000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:154497600-154521200	Weak transcription	Spleen	Spleen
4	chr1:154510400-154513600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:154511200-154511400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:154511400-154511600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:154511400-154511600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:154511600-154513200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:154512000-154513600	Strong transcription	Adipose Nuclei	Adipose
10	chr1:154512400-154512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:154512400-154512600	Active TSS	Pancreas	Pancrea
12	chr1:154512400-154513800	Enhancers	Lung	lung
13	chr1:154512600-154516400	Weak transcription	Pancreas	Pancrea

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