Variant report

Variant	esv3443648
Chromosome Location	chr1:113089801-113090287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113089513..113091265-chr1:113093037..113094577,2	K562	blood:
2	chr1:113086848..113091301-chr1:113248595..113251395,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155366	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372761036	chr1:113089811-113089812	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376257582	chr1:113089815-113089816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549858334	chr1:113089837-113089838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539470578	chr1:113089878-113089879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556237620	chr1:113089884-113089885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569140154	chr1:113089887-113089888	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576682836	chr1:113089900-113089901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535763824	chr1:113089960-113089961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188505559	chr1:113089980-113089981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572652974	chr1:113089985-113089986	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs193141668	chr1:113089994-113089995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536519068	chr1:113090080-113090081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12040657	chr1:113090081-113090082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147814402	chr1:113090094-113090095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6661642	chr1:113090109-113090110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs185678595	chr1:113090134-113090135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374735297	chr1:113090148-113090149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529228502	chr1:113090159-113090160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs59755766	chr1:113090209-113090210	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549004633	chr1:113090262-113090263	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368534096	chr1:113090287-113090288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113052200-113093200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:113058800-113119400	Weak transcription	HepG2	liver
3	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
4	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
5	chr1:113063400-113092400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:113065000-113092400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
9	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
10	chr1:113066000-113114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:113066200-113114400	Weak transcription	Dnd41	blood
13	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
14	chr1:113067800-113090200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:113068000-113100200	Weak transcription	Fetal Heart	heart
16	chr1:113070400-113095400	Weak transcription	Gastric	stomach
17	chr1:113070400-113120600	Weak transcription	Right Ventricle	heart
18	chr1:113070600-113111600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:113070600-113112400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:113070600-113112400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:113070600-113117800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:113070600-113120200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:113070600-113132400	Weak transcription	Aorta	Aorta
24	chr1:113071200-113090600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:113072000-113114400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:113076400-113115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:113078800-113090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:113080200-113117800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:113080800-113117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:113081200-113132200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:113081400-113132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:113081800-113132200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:113082000-113106600	Weak transcription	Fetal Kidney	kidney
34	chr1:113082000-113116000	Weak transcription	Left Ventricle	heart
35	chr1:113082000-113117400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:113082200-113118000	Weak transcription	Lung	lung
37	chr1:113083200-113123200	Weak transcription	Right Atrium	heart
38	chr1:113083600-113091000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:113083600-113111600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:113083600-113114400	Weak transcription	Fetal Brain Female	brain
41	chr1:113083600-113117400	Weak transcription	Brain Angular Gyrus	brain
42	chr1:113084000-113114600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:113084000-113131400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:113084200-113090600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:113084200-113091000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:113084200-113104400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:113084200-113110200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:113084200-113114800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:113084200-113117400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:113084200-113117400	Weak transcription	Brain Germinal Matrix	brain

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