Variant report

Variant	nsv870919
Chromosome Location	chr1:78993841-79010670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTGFR	hsa-miR-21-5p	chr1:79002228-79002246

Extended variants
information (count: 663 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530871	chr1:78993841-78993842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368828442	chr1:78993861-78993862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189948714	chr1:78993863-78993864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571451506	chr1:78993938-78993939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539979384	chr1:78993947-78993948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558280963	chr1:78993971-78993972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76828903	chr1:78993979-78993980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35137595	chr1:78993980-78993981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75272923	chr1:78993981-78993982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74856243	chr1:78994005-78994006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397980593	chr1:78994007-78994008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369493121	chr1:78994061-78994062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372890321	chr1:78994077-78994078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566790733	chr1:78994096-78994097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555325871	chr1:78994114-78994115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143509115	chr1:78994116-78994117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151318371	chr1:78994131-78994132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555443602	chr1:78994140-78994141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140616231	chr1:78994166-78994167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541344065	chr1:78994170-78994171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12097594	chr1:78994172-78994173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533337393	chr1:78994193-78994194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535725664	chr1:78994194-78994195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544749751	chr1:78994202-78994203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550290005	chr1:78994239-78994240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530482114	chr1:78994240-78994241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548977719	chr1:78994257-78994258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569422745	chr1:78994264-78994265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146540411	chr1:78994295-78994296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528421390	chr1:78994369-78994370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538101088	chr1:78994376-78994377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372396812	chr1:78994378-78994379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546907536	chr1:78994400-78994401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536354	chr1:78994440-78994441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182183988	chr1:78994446-78994447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557154919	chr1:78994458-78994459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570151763	chr1:78994467-78994468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186994975	chr1:78994468-78994469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369675046	chr1:78994477-78994478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541521448	chr1:78994489-78994490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190678590	chr1:78994525-78994526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541363522	chr1:78994540-78994541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569745653	chr1:78994541-78994542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576873250	chr1:78994547-78994548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553245987	chr1:78994588-78994589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375939741	chr1:78994593-78994594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545205631	chr1:78994637-78994638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112261704	chr1:78994643-78994644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563696183	chr1:78994644-78994645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538275	chr1:78994664-78994665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78988800-78995800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:78993200-78994000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:78993200-79002000	Weak transcription	NHDF-Ad	bronchial
4	chr1:78994000-79002000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:78995800-78998000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:78998000-79001800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78999200-78999600	Enhancers	Brain Anterior Caudate	brain
8	chr1:79000600-79000800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:79000600-79003000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:79001000-79002600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:79001800-79003000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:79002000-79002200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:79002000-79002400	Enhancers	NHDF-Ad	bronchial
14	chr1:79002000-79002600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:79002000-79002800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:79002200-79002800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:79002400-79002600	Genic enhancers	NHDF-Ad	bronchial
18	chr1:79002400-79002800	Enhancers	Osteobl	bone
19	chr1:79002600-79002800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:79002600-79003000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:79002600-79004000	Strong transcription	NHDF-Ad	bronchial
22	chr1:79002800-79003200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:79002800-79003400	Weak transcription	Osteobl	bone
24	chr1:79002800-79004200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:79002800-79007200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:79003000-79005800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:79003200-79003600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:79003400-79004000	Strong transcription	Osteobl	bone
29	chr1:79003600-79005600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:79004000-79005600	Weak transcription	NHDF-Ad	bronchial
31	chr1:79004000-79005800	Weak transcription	Osteobl	bone
32	chr1:79004200-79012400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:79005600-79006000	Enhancers	NHDF-Ad	bronchial
34	chr1:79005800-79007600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:79006000-79009200	Weak transcription	NHDF-Ad	bronchial
36	chr1:79009200-79009600	Enhancers	NHDF-Ad	bronchial
37	chr1:79010000-79010400	Enhancers	HMEC	breast

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