Variant report

Variant	esv2283787
Chromosome Location	chr1:192609602-192610057
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	CEBPB	chr1:192608983-192609650	HCT-116	colon:	n/a	n/a
2	CEBPB	chr1:192609091-192609619	HCT-116	colon:	n/a	n/a
3	EP300	chr1:192608968-192609692	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr1:192608931-192609663	A549	lung:	n/a	n/a
5	GATA3	chr1:192608924-192609635	SK-N-SH	brain:	n/a	chr1:192609246-192609254
6	GATA3	chr1:192608933-192609699	A549	lung:	n/a	chr1:192609246-192609254
7	GATA3	chr1:192608988-192609671	SK-N-SH	brain:	n/a	chr1:192609246-192609254
8	JUND	chr1:192609053-192609676	HCT-116	colon:	n/a	n/a
9	MAZ	chr1:192608730-192609822	GM12878	blood:	n/a	n/a
10	PBX3	chr1:192609012-192609617	SK-N-SH	brain:	n/a	n/a
11	SP1	chr1:192608960-192609646	HCT-116	colon:	n/a	n/a
12	SP1	chr1:192609079-192609644	A549	lung:	n/a	n/a
13	SP1	chr1:192609048-192609638	A549	lung:	n/a	n/a
14	TCF12	chr1:192608979-192609706	A549	lung:	n/a	n/a
15	TCF12	chr1:192608938-192609663	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192607291..192610228-chr1:192623335..192626008,2	K562	blood:

Variant related genes	Relation type
RGS13	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563119516	chr1:192609613-192609614	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192633134	chr1:192609634-192609635	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs184662537	chr1:192609635-192609636	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10801138	chr1:192609645-192609646	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76612809	chr1:192609692-192609693	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs551059442	chr1:192609711-192609712	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377231537	chr1:192609756-192609757	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547759984	chr1:192609782-192609783	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373780615	chr1:192609799-192609800	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371126222	chr1:192609800-192609801	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113318662	chr1:192609801-192609802	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564887532	chr1:192609823-192609824	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs530601885	chr1:192609837-192609838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs375628998	chr1:192609847-192609848	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs374095585	chr1:192609864-192609865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs570256093	chr1:192609877-192609878	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs144133436	chr1:192609903-192609904	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs10127997	chr1:192609963-192609964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189637106	chr1:192609990-192609991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs535344304	chr1:192610007-192610008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557716564	chr1:192610009-192610010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577642834	chr1:192610023-192610024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73060166	chr1:192610038-192610039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192600200-192620400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192608000-192610800	Enhancers	Fetal Lung	lung
3	chr1:192608200-192609800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:192608200-192609800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:192608200-192610000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:192608200-192611000	Enhancers	Fetal Intestine Large	intestine
7	chr1:192608400-192609800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:192608400-192610000	Enhancers	GM12878-XiMat	blood
9	chr1:192608600-192609800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:192608600-192610200	Enhancers	A549	lung
11	chr1:192608800-192609800	Enhancers	Osteobl	bone
12	chr1:192608800-192610200	Enhancers	Hela-S3	cervix
13	chr1:192609400-192610000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:192609600-192610000	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr1:192609600-192614000	Weak transcription	Ovary	ovary
16	chr1:192609800-192613000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:192609800-192613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:192610000-192610200	Enhancers	Fetal Intestine Small	intestine

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