Variant report

Variant	esv3378955
Chromosome Location	chr1:113210211-113210863
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	POLR2A	chr1:113210054-113210321	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:113208089-113210276	K562	blood:	n/a	n/a
3	POLR2A	chr1:113210022-113210498	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:113210655-113210915	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:113199081..113201005-chr1:113210169..113212981,2	K562	blood:
2	chr1:113158960..113161878-chr1:113209000..113211428,3	MCF-7	breast:
3	chr1:113208980..113212025-chr1:113215390..113218147,4	MCF-7	breast:

Variant related genes	Relation type
MOV10	TF binding region
ENSG00000007341	chromatin interactions
ENSG00000155363	chromatin interactions
ENSG00000116489	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554342968	chr1:113210240-113210241	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs190050663	chr1:113210257-113210258	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs143600243	chr1:113210260-113210261	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs540051807	chr1:113210354-113210355	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550091845	chr1:113210447-113210448	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs569771569	chr1:113210474-113210475	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs535539923	chr1:113210500-113210501	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183705904	chr1:113210519-113210520	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs12048528	chr1:113210534-113210535	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs186723065	chr1:113210535-113210536	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs115703958	chr1:113210556-113210557	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs192510212	chr1:113210629-113210630	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs531224463	chr1:113210656-113210657	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs57258894	chr1:113210672-113210673	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs60350641	chr1:113210673-113210674	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs549863311	chr1:113210681-113210682	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59557362	chr1:113210684-113210685	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs57705551	chr1:113210686-113210687	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs563330612	chr1:113210710-113210711	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568165854	chr1:113210725-113210726	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs543010585	chr1:113210733-113210734	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs59382872	chr1:113210734-113210735	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs183797021	chr1:113210740-113210741	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs541924619	chr1:113210784-113210785	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs561807256	chr1:113210812-113210813	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs527695269	chr1:113210853-113210854	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs186775053	chr1:113210859-113210860	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs572254489	chr1:113210863-113210864	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
2	chr1:113179000-113215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:113180000-113216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:113184200-113215600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:113184600-113214800	Strong transcription	Hela-S3	cervix
6	chr1:113185000-113214800	Strong transcription	Dnd41	blood
7	chr1:113185400-113216200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:113186000-113210800	Strong transcription	GM12878-XiMat	blood
9	chr1:113186000-113214800	Strong transcription	Fetal Thymus	thymus
10	chr1:113186000-113215000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:113186200-113215400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:113187000-113213200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:113187000-113215200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:113187200-113215200	Strong transcription	HSMM	muscle
15	chr1:113187400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:113187800-113216000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:113188400-113215000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:113188800-113213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:113189000-113213800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:113189200-113211000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:113189200-113214600	Strong transcription	NHEK	skin
22	chr1:113189200-113214800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:113189200-113215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:113189400-113214800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:113189800-113213800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:113189800-113215200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:113189800-113215400	Strong transcription	Placenta	Placenta
28	chr1:113189800-113216200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:113190000-113210600	Strong transcription	Primary B cells from cord blood	blood
30	chr1:113190000-113214600	Strong transcription	Liver	Liver
31	chr1:113190000-113215200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:113190000-113215200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:113190000-113215200	Strong transcription	NH-A	brain
34	chr1:113190000-113215400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:113190000-113215400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:113190200-113210600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:113190200-113214400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:113190200-113214600	Strong transcription	Adipose Nuclei	Adipose
39	chr1:113190600-113211000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:113190600-113213000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:113190600-113214200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:113190800-113215000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr1:113191000-113213600	Strong transcription	Primary T cells from cord blood	blood
44	chr1:113191000-113213800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:113191000-113215000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:113191400-113215200	Strong transcription	Fetal Intestine Large	intestine
47	chr1:113191600-113214800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:113194400-113216000	Weak transcription	Stomach Mucosa	stomach
49	chr1:113195800-113215200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:113196800-113215200	Strong transcription	Duodenum Mucosa	Duodenum

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