Variant report

Variant	esv11545
Chromosome Location	chr1:56002387-56002939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576069194	chr1:56002388-56002389	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544163566	chr1:56002394-56002395	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561265873	chr1:56002409-56002410	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76407568	chr1:56002432-56002433	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373772232	chr1:56002461-56002462	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546742693	chr1:56002474-56002475	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs189630723	chr1:56002501-56002502	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532200936	chr1:56002510-56002511	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs72667828	chr1:56002521-56002522	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13375461	chr1:56002529-56002530	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552989003	chr1:56002537-56002538	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537867617	chr1:56002575-56002576	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547898114	chr1:56002596-56002597	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs35713884	chr1:56002629-56002630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs452049	chr1:56002630-56002631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs180845326	chr1:56002646-56002647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567204629	chr1:56002660-56002661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550665355	chr1:56002667-56002668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539537263	chr1:56002668-56002669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556274884	chr1:56002712-56002713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576008226	chr1:56002730-56002731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1695936	chr1:56002749-56002750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547057525	chr1:56002762-56002763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111627219	chr1:56002763-56002764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142620327	chr1:56002803-56002804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150254945	chr1:56002846-56002847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12044949	chr1:56002908-56002909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
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
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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Gastric adenocarcinoma	19115996	CNVD
Parathyroid adenoma	22454399	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55997000-56002600	Enhancers	HepG2	liver
2	chr1:55997000-56005400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56000800-56002800	Enhancers	Fetal Intestine Large	intestine
4	chr1:56001600-56005400	Weak transcription	Psoas Muscle	Psoas
5	chr1:56002000-56002400	Enhancers	Fetal Intestine Small	intestine
6	chr1:56002000-56002400	Enhancers	Fetal Muscle Leg	muscle
7	chr1:56002000-56002400	Enhancers	Fetal Thymus	thymus
8	chr1:56002000-56002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:56002000-56002600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:56002000-56002600	Enhancers	Colonic Mucosa	Colon
11	chr1:56002000-56002600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:56002000-56003200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:56002200-56002400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:56002200-56002400	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr1:56002200-56002600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:56002200-56002600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:56002200-56002600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:56002200-56002600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:56002200-56002600	Active TSS	Colon Smooth Muscle	Colon
20	chr1:56002200-56002600	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:56002200-56002600	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:56002200-56002600	Enhancers	NHLF	lung
23	chr1:56002200-56002600	Enhancers	Osteobl	bone
24	chr1:56002200-56005400	Weak transcription	Right Atrium	heart
25	chr1:56002400-56002600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:56002400-56002600	Active TSS	Rectal Smooth Muscle	rectum
27	chr1:56002400-56005200	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:56002600-56002800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:56002600-56003600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:56002600-56005400	Weak transcription	NHDF-Ad	bronchial
31	chr1:56002600-56005600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:56002600-56005600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:56002600-56007400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:56002600-56007600	Weak transcription	Osteobl	bone
35	chr1:56002600-56007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:56002600-56007800	Weak transcription	NHLF	lung
37	chr1:56002600-56008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:56002800-56007800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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