Variant report

Variant	esv1143105
Chromosome Location	chr1:154156352-154156354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:154155822-154156368	H1-hESC	embryonic stem cell:	n/a	n/a
2	HCFC1	chr1:154154309-154156525	Hela-S3	cervix:	n/a	n/a
3	JUN	chr1:154154490-154156460	K562	blood:	n/a	chr1:154155441-154155452 chr1:154154531-154154543
4	MTA3	chr1:154154328-154156391	GM12878	blood:	n/a	n/a
5	MXI1	chr1:154154298-154156427	SK-N-SH	brain:	n/a	chr1:154155880-154155895 chr1:154155882-154155897
6	PML	chr1:154154352-154156380	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:154154342-154156493	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:154154273-154156477	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:154156294-154156546	K562	blood:	n/a	n/a
10	POLR2A	chr1:154154287-154156402	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr1:154154282-154156373	GM12878	blood:	n/a	n/a
12	SIN3A	chr1:154154526-154156391	H1-hESC	embryonic stem cell:	n/a	chr1:154155423-154155432
13	SP1	chr1:154155477-154156457	H1-hESC	embryonic stem cell:	n/a	chr1:154155952-154155959
14	SP1	chr1:154155592-154156469	H1-hESC	embryonic stem cell:	n/a	chr1:154155952-154155959
15	TAF1	chr1:154154858-154156364	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF384	chr1:154154782-154156540	K562	blood:	n/a	n/a
17	ZNF384	chr1:154156191-154156421	GM12878	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154154370..154156741-chr1:154377003..154381011,5	MCF-7	breast:
2	chr1:154155826..154156719-chr11:67168555..67169361,2	Hela-S3	cervix:
3	chr1:154154597..154158912-chr1:154243474..154246502,4	K562	blood:
4	chr1:154155753..154156362-chr1:173836761..173837295,2	Hela-S3	cervix:
5	chr1:153915763..153918216-chr1:154155038..154156841,2	MCF-7	breast:
6	chr1:154155278..154160143-chr1:154165338..154167782,4	K562	blood:
7	chr1:153961745..153965852-chr1:154153352..154156776,9	K562	blood:
8	chr1:153917479..153920688-chr1:154153090..154156398,3	MCF-7	breast:
9	chr1:154140357..154146704-chr1:154153646..154156969,7	MCF-7	breast:
10	chr1:154155037..154157341-chr1:154243497..154245632,3	MCF-7	breast:
11	chr1:154151605..154157694-chr1:154191153..154195788,18	MCF-7	breast:
12	chr1:154154241..154157353-chr1:154161640..154168172,9	MCF-7	breast:
13	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
14	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
15	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
16	chr1:154154736..154156502-chr20:45945207..45947491,2	MCF-7	breast:
17	chr1:153938202..153942686-chr1:154154566..154158952,5	MCF-7	breast:
18	chr1:154153643..154157449-chr1:154190048..154195510,8	K562	blood:
19	chr1:153962867..153965202-chr1:154154379..154156785,3	MCF-7	breast:
20	chr1:154156233..154161758-chr1:154162933..154167291,6	K562	blood:
21	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
22	chr1:153940285..153941977-chr1:154154150..154156390,2	MCF-7	breast:
23	chr1:153966341..153968649-chr1:154153580..154156511,2	K562	blood:
24	chr1:153961765..153965852-chr1:154152407..154156955,8	K562	blood:

No data

Variant related genes	Relation type
TPM3	TF binding region
ENSG00000143575	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000198837	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000143569	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000273026	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000231416	chromatin interactions
ENSG00000215938	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000228013	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000143612	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 116 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556708488	chr1:154156353-154156354	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154151600-154156400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:154152400-154156600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:154152800-154156600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:154153600-154156400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:154153800-154156400	Active TSS	GM12878-XiMat	blood
6	chr1:154153800-154156600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:154153800-154156600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:154153800-154156600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:154154000-154156400	Active TSS	Brain Germinal Matrix	brain
10	chr1:154154000-154156400	Active TSS	A549	lung
11	chr1:154154000-154157400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:154154200-154156400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:154154200-154156400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:154154200-154156400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:154154200-154156400	Active TSS	K562	blood
16	chr1:154154200-154156600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:154154400-154156400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:154154400-154156400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154154600-154156400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:154154600-154156400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:154154600-154156400	Active TSS	HSMMtube	muscle
22	chr1:154154800-154156400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:154155000-154156600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:154155400-154156600	Active TSS	HepG2	liver
25	chr1:154155600-154156400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:154155800-154156400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:154155800-154156400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr1:154155800-154156400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:154155800-154156400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:154155800-154156400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:154155800-154156400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:154155800-154156400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr1:154155800-154156400	Flanking Active TSS	Fetal Thymus	thymus
34	chr1:154155800-154156400	Flanking Active TSS	Dnd41	blood
35	chr1:154155800-154156400	Flanking Active TSS	HMEC	breast
36	chr1:154155800-154156400	Flanking Active TSS	HSMM	muscle
37	chr1:154155800-154156400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:154155800-154156400	Flanking Active TSS	NH-A	brain
39	chr1:154155800-154156400	Flanking Active TSS	NHEK	skin
40	chr1:154155800-154156600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr1:154155800-154156600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:154156000-154156400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:154156000-154156400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:154156000-154156400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:154156000-154156400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:154156000-154156400	Flanking Active TSS	Fetal Brain Female	brain
47	chr1:154156000-154156400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:154156000-154156400	Enhancers	Small Intestine	intestine
49	chr1:154156000-154156400	Flanking Active TSS	Stomach Mucosa	stomach
50	chr1:154156000-154156600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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