Variant report

Variant	esv3390899
Chromosome Location	chr1:151570067-151570591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	1:151411623-151426875..1:151565791-151575769	Hela-S3	cervix:
2	1:151516085-151535167..1:151565791-151575769	H1-hESC	embryonic stem cell:	embryo
3	1:151496437-151509688..1:151565791-151575769	K562	blood:
4	chr1:151569138..151571685-chr1:151583171..151587169,4	MCF-7	breast:
5	1:151333184-151350267..1:151565791-151575769	GM12878	blood:
6	chr1:151568166..151570145-chr8:144355339..144358243,2	MCF-7	breast:
7	chr1:151511392..151513624-chr1:151569200..151573110,3	MCF-7	breast:
8	1:151427826-151434310..1:151565791-151575769	K562	blood:
9	chr1:151511423..151515808-chr1:151564689..151570634,14	MCF-7	breast:
10	1:151254384-151268403..1:151565791-151575769	K562	blood:
11	1:151565791-151575769..1:151618750-151636526	K562	blood:
12	chr1:151556628..151559025-chr1:151567592..151570969,4	MCF-7	breast:
13	chr1:151559403..151561467-chr1:151568084..151570388,2	MCF-7	breast:
14	chr1:151568597..151570310-chr1:151583939..151586200,2	MCF-7	breast:
15	chr1:151569147..151571647-chr1:151575005..151576628,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207606	chromatin interactions
ENSG00000252840	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000250571	chromatin interactions
ENSG00000223861	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000250734	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545675463	chr1:151570083-151570084	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs75799062	chr1:151570100-151570101	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs368240219	chr1:151570129-151570130	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs527884993	chr1:151570185-151570186	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs562968356	chr1:151570207-151570208	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs567270700	chr1:151570237-151570238	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs1539492	chr1:151570241-151570242	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144227843	chr1:151570260-151570261	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs569708624	chr1:151570263-151570264	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs184603622	chr1:151570313-151570314	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs552500363	chr1:151570332-151570333	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs573548799	chr1:151570400-151570401	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs199692256	chr1:151570427-151570428	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs565924225	chr1:151570443-151570444	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs187248341	chr1:151570452-151570453	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs146535702	chr1:151570476-151570477	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs10888424	chr1:151570545-151570546	Weak transcription	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536385697	chr1:151570571-151570572	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs556232200	chr1:151570581-151570582	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs377286668	chr1:151570582-151570583	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	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
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151555400-151580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151566600-151574200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151566800-151572000	Weak transcription	Fetal Heart	heart
4	chr1:151568400-151570200	Enhancers	A549	lung
5	chr1:151569400-151570200	Enhancers	K562	blood
6	chr1:151569600-151574200	Weak transcription	HepG2	liver
7	chr1:151569800-151570400	Enhancers	Hela-S3	cervix
8	chr1:151569800-151570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:151570200-151574200	Weak transcription	K562	blood
10	chr1:151570200-151578600	Weak transcription	A549	lung
11	chr1:151570400-151578600	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links