Variant report

Variant	esv3353154
Chromosome Location	chr1:150459367-150459588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:469)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:150459499-150459904	K562	blood:	n/a	n/a
2	ATF1	chr1:150459513-150460035	K562	blood:	n/a	n/a
3	ATF2	chr1:150459452-150459951	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:150459459-150460147	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:150459389-150460050	GM12878	blood:	n/a	n/a
6	ATF2	chr1:150459404-150460044	GM12878	blood:	n/a	n/a
7	ATF3	chr1:150459401-150460073	A549	lung:	n/a	n/a
8	ATF3	chr1:150459474-150460062	A549	lung:	n/a	n/a
9	BATF	chr1:150459452-150459879	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:150459536-150459841	GM12878	blood:	n/a	n/a
11	BCL3	chr1:150459380-150460182	A549	lung:	n/a	n/a
12	BCL3	chr1:150459412-150460215	A549	lung:	n/a	n/a
13	BCLAF1	chr1:150459426-150460087	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:150459388-150460222	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:150459523-150460070	K562	blood:	n/a	n/a
16	BHLHE40	chr1:150459471-150460025	GM12878	blood:	n/a	n/a
17	BRCA1	chr1:150459551-150459901	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr1:150459543-150460101	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr1:150459389-150460147	K562	blood:	n/a	n/a
20	CBX3	chr1:150459497-150460026	K562	blood:	n/a	n/a
21	CEBPB	chr1:150459395-150460099	GM12878	blood:	n/a	chr1:150459854-150459862
22	CEBPB	chr1:150459588-150459994	Hela-S3	cervix:	n/a	chr1:150459854-150459862
23	CEBPD	chr1:150459473-150460181	K562	blood:	n/a	n/a
24	CEBPD	chr1:150459573-150460103	HepG2	liver:	n/a	n/a
25	CHD1	chr1:150459488-150460196	GM12878	blood:	n/a	n/a
26	CHD1	chr1:150459548-150460136	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr1:150459525-150460129	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr1:150459547-150460078	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr1:150459504-150460124	K562	blood:	n/a	n/a
30	CHD2	chr1:150459463-150460106	GM12878	blood:	n/a	n/a
31	CREB1	chr1:150459545-150459960	A549	lung:	n/a	n/a
32	CREB1	chr1:150459443-150460211	HepG2	liver:	n/a	n/a
33	CREB1	chr1:150459451-150460172	HepG2	liver:	n/a	n/a
34	CREB1	chr1:150459569-150460112	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr1:150459468-150460101	A549	lung:	n/a	n/a
36	CREB1	chr1:150459433-150460187	GM12878	blood:	n/a	n/a
37	CTCF	chr1:150459580-150459730	RPTEC	kidney:	n/a	n/a
38	CUX1	chr1:150459525-150459948	K562	blood:	n/a	n/a
39	E2F6	chr1:150459573-150460092	K562	blood:	n/a	n/a
40	E2F6	chr1:150459548-150460037	K562	blood:	n/a	n/a
41	E2F6	chr1:150459434-150460144	A549	lung:	n/a	n/a
42	EBF1	chr1:150459537-150460006	GM12878	blood:	n/a	n/a
43	ELF1	chr1:150459537-150460124	GM12878	blood:	n/a	n/a
44	ELF1	chr1:150459394-150460064	A549	lung:	n/a	n/a
45	ELF1	chr1:150459458-150460719	MCF-7	breast:	n/a	chr1:150460457-150460470
46	ELF1	chr1:150459529-150460043	HepG2	liver:	n/a	n/a
47	ELF1	chr1:150459446-150460150	SK-N-SH	brain:	n/a	n/a
48	ELF1	chr1:150459346-150460750	MCF-7	breast:	n/a	chr1:150460457-150460470
49	ELF1	chr1:150459520-150460084	HepG2	liver:	n/a	n/a
50	ELF1	chr1:150459387-150460336	HCT-116	colon:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150458028..150460943-chr1:150462500..150464059,2	K562	blood:
2	chr1:150457162..150459509-chr1:150520340..150522663,2	MCF-7	breast:
3	chr1:150457915..150461156-chr1:150532058..150534752,4	MCF-7	breast:
4	chr1:150458473..150461317-chr1:150523404..150525508,2	MCF-7	breast:
5	chr1:150458483..150461483-chr1:150486453..150489390,6	MCF-7	breast:
6	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
7	chr1:150447687..150449765-chr1:150457686..150459681,3	MCF-7	breast:
8	chr1:150458113..150460742-chr1:150599904..150603804,4	MCF-7	breast:
9	chr1:150458168..150459777-chr1:150539728..150541445,2	MCF-7	breast:
10	chr1:150458426..150460384-chr1:150464250..150466250,2	K562	blood:
11	chr1:150457403..150459497-chr1:150504358..150506324,2	MCF-7	breast:
12	chr1:150459313..150460106-chr17:16284149..16284677,2	HCT-116	colon:
13	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:
14	chr1:150459274..150461316-chr1:150480408..150482138,3	K562	blood:
15	chr1:150455770..150459652-chr1:150544183..150547234,4	K562	blood:
16	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
17	chr1:150456469..150460175-chr1:150533144..150536039,5	K562	blood:
18	chr1:150459417..150461989-chr1:150549858..150552620,3	MCF-7	breast:
19	chr1:150459471..150461027-chr1:150601141..150603564,2	K562	blood:
20	chr1:150455871..150459967-chr1:150528884..150531556,5	MCF-7	breast:
21	chr1:150458161..150459880-chr1:150550348..150552555,2	MCF-7	breast:
22	chr1:150458118..150461224-chr1:150521416..150523335,4	K562	blood:
23	chr1:150458661..150461236-chr1:150531725..150536785,4	MCF-7	breast:
24	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
25	chr1:113160681..113163117-chr1:150458124..150460105,2	MCF-7	breast:
26	chr1:150458453..150462100-chr1:150463666..150466292,4	K562	blood:
27	chr1:150335716..150337496-chr1:150457670..150459977,2	MCF-7	breast:
28	chr1:150334215..150336170-chr1:150458883..150461226,2	K562	blood:
29	chr1:150458065..150461622-chr1:150486691..150490573,5	MCF-7	breast:

No data

Variant related genes	Relation type
TARS2	TF binding region
ENSG00000237781	chromatin interactions
ENSG00000143382	chromatin interactions
ENSG00000143420	chromatin interactions
ENSG00000228126	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000143369	chromatin interactions
ENSG00000143374	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000225996	chromatin interactions
ENSG00000264553	chromatin interactions
ENSG00000170315	chromatin interactions
ENSG00000203804	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375041511	chr1:150459377-150459378	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs146199341	chr1:150459385-150459386	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs374410563	chr1:150459389-150459390	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs71086515	chr1:150459397-150459398	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs9436009	chr1:150459426-150459427	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs587642300	chr1:150459458-150459459	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs587693226	chr1:150459524-150459525	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	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
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
Breast cancer	21611746	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150445000-150459400	Weak transcription	Fetal Brain Male	brain
2	chr1:150445400-150459400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:150445800-150459400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:150445800-150459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:150445800-150459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:150446400-150459400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:150446400-150459400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:150446400-150459400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:150451200-150459400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:150452000-150459400	Weak transcription	HUVEC	blood vessel
11	chr1:150452600-150459400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:150457400-150459400	Weak transcription	Esophagus	oesophagus
13	chr1:150457600-150459400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:150457800-150459400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:150457800-150459400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:150457800-150459400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:150457800-150459400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:150457800-150459400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:150457800-150459400	Weak transcription	Fetal Heart	heart
20	chr1:150457800-150459400	Weak transcription	HSMM	muscle
21	chr1:150457800-150459400	Weak transcription	NH-A	brain
22	chr1:150457800-150459400	Weak transcription	NHDF-Ad	bronchial
23	chr1:150458000-150459400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:150458000-150459400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:150458000-150459400	Weak transcription	Fetal Intestine Large	intestine
26	chr1:150458000-150459400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:150458000-150459400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:150458000-150459400	Weak transcription	A549	lung
29	chr1:150458000-150459400	Weak transcription	Hela-S3	cervix
30	chr1:150458000-150459400	Weak transcription	HMEC	breast
31	chr1:150458000-150459400	Weak transcription	NHLF	lung
32	chr1:150458000-150459400	Weak transcription	Osteobl	bone
33	chr1:150458200-150459400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:150458200-150459400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:150458200-150459400	Weak transcription	NHEK	skin
36	chr1:150459000-150459400	Enhancers	Primary B cells from cord blood	blood
37	chr1:150459000-150459400	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:150459000-150459400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:150459000-150459400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:150459000-150459400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:150459000-150459400	Enhancers	K562	blood
42	chr1:150459000-150460200	Active TSS	Brain Hippocampus Middle	brain
43	chr1:150459200-150459400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:150459200-150459400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:150459200-150459400	Enhancers	Placenta	Placenta
46	chr1:150459200-150459400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr1:150459200-150459600	Enhancers	Small Intestine	intestine
48	chr1:150459200-150460000	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:150459200-150460000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:150459200-150460200	Active TSS	Psoas Muscle	Psoas

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