Variant report

Variant	nsv1003385
Chromosome Location	chr1:56430742-56468732
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	chr1:56453401..56456285-chr1:56458456..56460336,2	K562	blood:
2	chr1:56453401..56456285-chr1:56458456..56460336,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAA2-5	chr1:56436568-56436730	XLOC_000210
2	lnc-PRKAA2-4	chr1:56441023-56441144	XLOC_000211

Variant related genes	Relation type
EDNRA	miRNA target sites

Extended variants
information (count: 1445 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2404389	chr1:56430742-56430743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578157011	chr1:56430788-56430789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543887893	chr1:56430835-56430836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4622106	chr1:56430926-56430927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181102941	chr1:56430969-56430970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141921186	chr1:56430989-56430990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527783337	chr1:56431001-56431002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547730382	chr1:56431061-56431062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150245155	chr1:56431078-56431079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542152035	chr1:56431090-56431091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561811671	chr1:56431093-56431094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527513671	chr1:56431116-56431117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4244654	chr1:56431133-56431134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2404390	chr1:56431149-56431150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11579826	chr1:56431189-56431190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373709653	chr1:56431190-56431191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532867117	chr1:56431211-56431212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529261538	chr1:56431258-56431259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549426000	chr1:56431272-56431273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371564371	chr1:56431297-56431298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569674220	chr1:56431324-56431325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547539816	chr1:56431340-56431341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76875470	chr1:56431348-56431349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566229265	chr1:56431424-56431425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185348057	chr1:56431471-56431472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558409058	chr1:56431506-56431507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578185420	chr1:56431586-56431587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543971427	chr1:56431587-56431588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188149791	chr1:56431591-56431592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574005250	chr1:56431597-56431598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542638649	chr1:56431643-56431644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181983965	chr1:56431658-56431659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527612017	chr1:56431779-56431780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186393912	chr1:56431791-56431792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563948860	chr1:56431801-56431802	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532953303	chr1:56431816-56431817	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564340969	chr1:56431836-56431837	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552381252	chr1:56431837-56431838	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76827955	chr1:56431856-56431857	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190802399	chr1:56431872-56431873	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183423625	chr1:56431909-56431910	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570736706	chr1:56431930-56431931	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74075217	chr1:56431955-56431956	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565644454	chr1:56431969-56431970	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36089299	chr1:56431979-56431980	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77432142	chr1:56432025-56432026	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552091059	chr1:56432053-56432054	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571914225	chr1:56432089-56432090	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534962733	chr1:56432117-56432118	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11206696	chr1:56432149-56432150	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Prostate cancer	18632612	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

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56425800-56441000	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:56426800-56432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:56427000-56431000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:56427200-56434000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:56430400-56433800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56431000-56432600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:56431200-56431800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:56431200-56432200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:56431400-56431800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:56431400-56432200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:56431400-56432400	Enhancers	NHEK	skin
12	chr1:56431600-56431800	Enhancers	Osteobl	bone
13	chr1:56431600-56432200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:56431600-56432400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:56431600-56432400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:56431800-56432000	Enhancers	NHDF-Ad	bronchial
17	chr1:56431800-56432200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:56431800-56432200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:56431800-56432200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:56431800-56432200	Enhancers	Dnd41	blood
21	chr1:56431800-56432200	Flanking Active TSS	Osteobl	bone
22	chr1:56431800-56432400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:56432000-56432200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:56432000-56435800	Weak transcription	NHDF-Ad	bronchial
25	chr1:56432200-56432400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:56432200-56432400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:56432200-56435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:56432200-56439800	Weak transcription	Osteobl	bone
29	chr1:56432400-56435200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:56432800-56433800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:56433800-56434000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:56433800-56434400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:56434000-56434200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:56434000-56434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:56434200-56434400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:56434200-56435200	Enhancers	Fetal Lung	lung
37	chr1:56434400-56434600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:56434400-56436000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:56434400-56436800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:56434600-56437000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:56435000-56436400	Enhancers	HSMMtube	muscle
42	chr1:56435200-56436000	Weak transcription	Fetal Lung	lung
43	chr1:56435200-56436600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:56435800-56436600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:56435800-56437600	Enhancers	NHDF-Ad	bronchial
46	chr1:56436000-56436200	Enhancers	NHLF	lung
47	chr1:56436000-56436400	Enhancers	Hela-S3	cervix
48	chr1:56436000-56436400	Enhancers	HSMM	muscle
49	chr1:56436000-56436800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:56436000-56436800	Enhancers	Fetal Lung	lung

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