Variant report

Variant	esv1831276
Chromosome Location	chr1:57139370-57175158
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:57131079..57133360-chr1:57142832..57145132,2	MCF-7	breast:
2	chr1:55750589..55751527-chr1:57174232..57175597,4	K562	blood:
3	chr1:56874466..56875023-chr1:57174644..57175624,2	K562	blood:
4	chr1:57174557..57176928-chr1:57179805..57181791,3	K562	blood:
5	chr1:55923553..55925423-chr1:57168281..57171195,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PRKAA2	hsa-miR-182-5p	chr1:57174866-57174873

Extended variants
information (count: 1323 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2746339	chr1:57139370-57139371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568133428	chr1:57139388-57139389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533907962	chr1:57139396-57139397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547450989	chr1:57139413-57139414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188092266	chr1:57139420-57139421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539540700	chr1:57139517-57139518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148281138	chr1:57139568-57139569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552319649	chr1:57139586-57139587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2796535	chr1:57139629-57139630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs376269593	chr1:57139648-57139649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138595632	chr1:57139666-57139667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199514672	chr1:57139673-57139674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536164132	chr1:57139694-57139695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2796534	chr1:57139824-57139825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374349944	chr1:57139845-57139846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541063408	chr1:57139851-57139852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192675465	chr1:57139853-57139854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141137529	chr1:57139858-57139859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112796183	chr1:57139870-57139871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563508489	chr1:57139883-57139884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184148290	chr1:57139939-57139940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536157127	chr1:57139995-57139996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553902911	chr1:57140027-57140028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139156765	chr1:57140039-57140040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187294561	chr1:57140047-57140048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55717918	chr1:57140070-57140071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374366527	chr1:57140088-57140089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370153538	chr1:57140117-57140118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373328629	chr1:57140146-57140147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557718526	chr1:57140161-57140162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12134704	chr1:57140214-57140215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528351066	chr1:57140223-57140224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547809219	chr1:57140227-57140228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570752203	chr1:57140230-57140231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369371089	chr1:57140235-57140236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573031785	chr1:57140272-57140273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536602615	chr1:57140297-57140298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11394634	chr1:57140349-57140350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386367024	chr1:57140350-57140351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375376584	chr1:57140355-57140356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386367025	chr1:57140356-57140357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533468304	chr1:57140399-57140400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560738431	chr1:57140561-57140562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370684099	chr1:57140574-57140575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545734244	chr1:57140587-57140588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6671760	chr1:57140665-57140666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192235200	chr1:57140672-57140673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536029720	chr1:57140676-57140677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74075718	chr1:57140680-57140681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145292195	chr1:57140757-57140758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	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
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57123000-57141800	Weak transcription	Hela-S3	cervix
3	chr1:57123000-57142000	Weak transcription	A549	lung
4	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
6	chr1:57129800-57152200	Weak transcription	Psoas Muscle	Psoas
7	chr1:57135200-57140600	Enhancers	Fetal Heart	heart
8	chr1:57135400-57142000	Weak transcription	Left Ventricle	heart
9	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57136200-57140000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:57136200-57161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:57136800-57139800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:57137000-57141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:57139200-57142200	Weak transcription	HepG2	liver
15	chr1:57139800-57141000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:57140000-57141000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:57140600-57142000	Weak transcription	Fetal Heart	heart
18	chr1:57141000-57141200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:57141000-57141200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:57141200-57141600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:57141200-57141600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:57141600-57142600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:57141600-57143000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:57141600-57144000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:57141600-57144000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:57141800-57143000	Enhancers	NHDF-Ad	bronchial
27	chr1:57141800-57143200	Enhancers	NHLF	lung
28	chr1:57141800-57143400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:57141800-57144000	Enhancers	Hela-S3	cervix
30	chr1:57142000-57142200	Genic enhancers	Left Ventricle	heart
31	chr1:57142000-57142600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:57142000-57142800	Enhancers	A549	lung
33	chr1:57142000-57142800	Enhancers	HSMM	muscle
34	chr1:57142000-57143200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:57142000-57143400	Enhancers	Fetal Heart	heart
36	chr1:57142200-57142600	Strong transcription	HepG2	liver
37	chr1:57142200-57142600	Enhancers	HSMMtube	muscle
38	chr1:57142200-57143000	Enhancers	NH-A	brain
39	chr1:57142200-57143200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:57142200-57145000	Weak transcription	Left Ventricle	heart
41	chr1:57142600-57142800	Enhancers	Osteobl	bone
42	chr1:57142600-57144000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:57142600-57145000	Weak transcription	HepG2	liver
44	chr1:57142600-57150400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:57143000-57153600	Weak transcription	NH-A	brain
46	chr1:57143400-57143600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:57143400-57149400	Weak transcription	Fetal Heart	heart
48	chr1:57143600-57143800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:57143600-57153600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:57144000-57145200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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