Variant report

Variant	esv3522721
Chromosome Location	chr1:45989241-45989554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr1:45989124-45989687	K562	blood:	n/a	n/a
2	GATA2	chr1:45989066-45989596	K562	blood:	n/a	n/a
3	POLR2A	chr1:45989226-45989293	HepG2	liver:	n/a	n/a
4	RCOR1	chr1:45989224-45989561	K562	blood:	n/a	n/a
5	TEAD4	chr1:45989026-45989583	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:45980210..45995142-chr1:46046095..46057139,89	K562	blood:
2	chr1:45284090..45287076-chr1:45986937..45989870,4	K562	blood:
3	chr1:45985342..45989391-chr1:46011113..46019467,18	MCF-7	breast:
4	chr1:45987332..45989335-chr1:46087766..46089426,2	K562	blood:
5	chr1:45985920..45989261-chr1:46150872..46154561,4	K562	blood:
6	chr1:45284051..45285694-chr1:45989373..45992080,2	K562	blood:
7	chr1:45984791..45989119-chr1:45989451..45994043,12	MCF-7	breast:
8	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
9	chr1:45184712..45189957-chr1:45986029..45989344,7	K562	blood:
10	chr1:45982844..45990993-chr1:46030121..46038313,25	K562	blood:
11	chr1:45985569..45992282-chr1:46014173..46025125,38	MCF-7	breast:
12	chr1:45805140..45807328-chr1:45987853..45992059,3	K562	blood:
13	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
14	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
15	chr1:45826987..45828662-chr1:45989193..45991039,2	K562	blood:
16	chr1:45982342..45989534-chr1:46006947..46020678,57	K562	blood:
17	chr1:45984465..45989261-chr1:46150683..46156386,7	K562	blood:

No data

Variant related genes	Relation type
PRDX1	TF binding region
ENSG00000159596	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000117448	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000159588	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000132780	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367548108	chr1:45989249-45989250	Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs559137084	chr1:45989268-45989269	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs542968214	chr1:45989279-45989280	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs146962773	chr1:45989287-45989288	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs531576643	chr1:45989343-45989344	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs544887344	chr1:45989415-45989416	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs12066809	chr1:45989428-45989429	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527418293	chr1:45989484-45989485	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs12065695	chr1:45989502-45989503	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566958173	chr1:45989521-45989522	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs529621200	chr1:45989548-45989549	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45988200-45990000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:45988200-45990000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:45988200-45990600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:45988200-45990600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:45988200-45990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:45988200-45990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:45988200-45991000	Enhancers	Dnd41	blood
8	chr1:45988200-45992200	Weak transcription	Fetal Lung	lung
9	chr1:45988200-45993000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:45988400-45989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:45988400-45990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:45988400-45992200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:45988400-45992200	Weak transcription	Fetal Kidney	kidney
14	chr1:45988400-45993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:45988400-45997200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:45988600-45990000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:45988600-45990600	Weak transcription	HSMMtube	muscle
18	chr1:45988600-45991000	Weak transcription	Liver	Liver
19	chr1:45988600-45992200	Weak transcription	Fetal Heart	heart
20	chr1:45988600-45992200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:45988600-45993400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:45988800-45989600	Enhancers	K562	blood
23	chr1:45988800-45989800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:45988800-45990600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:45988800-45990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:45989000-45990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:45989000-45990600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:45989000-45990600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:45989000-45990600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:45989000-45990600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:45989000-45990600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:45989000-45990600	Weak transcription	Stomach Mucosa	stomach
33	chr1:45989000-45993200	Weak transcription	Placenta	Placenta
34	chr1:45989200-45989400	Enhancers	Hela-S3	cervix
35	chr1:45989200-45990200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:45989200-45990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:45989200-45990600	Weak transcription	A549	lung
38	chr1:45989200-45990600	Weak transcription	HepG2	liver
39	chr1:45989200-46000600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:45989400-45990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:45989400-45990400	Weak transcription	Hela-S3	cervix

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