Variant report

Variant	nsv947488
Chromosome Location	chr1:56550325-56571505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 781 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570719431	chr1:56550427-56550428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532685097	chr1:56550432-56550433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112143816	chr1:56550448-56550449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552485100	chr1:56550479-56550480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183621729	chr1:56550485-56550486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531225352	chr1:56550494-56550495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529746246	chr1:56550505-56550506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547844566	chr1:56550510-56550511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190682902	chr1:56550521-56550522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77622011	chr1:56550534-56550535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77594636	chr1:56550552-56550553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547292159	chr1:56550655-56550656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541695238	chr1:56550663-56550664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59121815	chr1:56550666-56550667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115164622	chr1:56550692-56550693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575675683	chr1:56550705-56550706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568340211	chr1:56550723-56550724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544628181	chr1:56550747-56550748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535873602	chr1:56550793-56550794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546151953	chr1:56550795-56550796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574832933	chr1:56550830-56550831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193034434	chr1:56550864-56550865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557163573	chr1:56550877-56550878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144959264	chr1:56550884-56550885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185372053	chr1:56551005-56551006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112181267	chr1:56551027-56551028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189905886	chr1:56551034-56551035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147867530	chr1:56551037-56551038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531166515	chr1:56551046-56551047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547784208	chr1:56551126-56551127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568090290	chr1:56551141-56551142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539951382	chr1:56551147-56551148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527382162	chr1:56551154-56551155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181311497	chr1:56551194-56551195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139891218	chr1:56551234-56551235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114794613	chr1:56551236-56551237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540946333	chr1:56551279-56551280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556459069	chr1:56551304-56551305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142844353	chr1:56551309-56551310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151065100	chr1:56551375-56551376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535796922	chr1:56551391-56551392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554655222	chr1:56551486-56551487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372151011	chr1:56551489-56551490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571309118	chr1:56551526-56551527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574808189	chr1:56551547-56551548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559634966	chr1:56551601-56551602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534012015	chr1:56551720-56551721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368905699	chr1:56551759-56551760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75779085	chr1:56551788-56551789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554260170	chr1:56551793-56551794	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56548800-56558600	Weak transcription	NHDF-Ad	bronchial
2	chr1:56549600-56550600	Enhancers	Left Ventricle	heart
3	chr1:56549800-56550600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:56549800-56550600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:56550000-56550600	Enhancers	Psoas Muscle	Psoas
6	chr1:56550200-56552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:56552600-56553000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:56555000-56555200	Enhancers	Fetal Thymus	thymus
9	chr1:56555000-56555400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:56555000-56555400	Enhancers	Placenta	Placenta
11	chr1:56555400-56555800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:56555400-56555800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:56555400-56555800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:56555400-56555800	Active TSS	Placenta	Placenta
15	chr1:56556000-56556200	Enhancers	Fetal Thymus	thymus
16	chr1:56556200-56558600	Weak transcription	Fetal Thymus	thymus
17	chr1:56558600-56559000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:56558600-56559200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:56558600-56559600	Enhancers	Dnd41	blood
20	chr1:56558600-56562400	Enhancers	Fetal Thymus	thymus
21	chr1:56558600-56562600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:56558600-56563000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:56558600-56568000	Enhancers	NHDF-Ad	bronchial
24	chr1:56558800-56559200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:56558800-56559400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:56558800-56559400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:56558800-56559400	Enhancers	Fetal Muscle Leg	muscle
28	chr1:56558800-56559400	Enhancers	Thymus	Thymus
29	chr1:56559000-56559200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:56559000-56559400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:56559000-56559400	Enhancers	Fetal Heart	heart
32	chr1:56559000-56560000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:56559000-56561200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:56559400-56559800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:56559400-56560800	Weak transcription	Thymus	Thymus
36	chr1:56559400-56561400	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:56559600-56560600	Weak transcription	Dnd41	blood
38	chr1:56559600-56561000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:56559800-56560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:56560000-56561200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:56560600-56562200	Enhancers	Dnd41	blood
42	chr1:56560800-56561600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:56560800-56561600	Enhancers	Thymus	Thymus
44	chr1:56561000-56562400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:56561200-56561600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:56561200-56562600	Enhancers	Osteobl	bone
47	chr1:56561200-56562800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:56561400-56562200	Enhancers	Fetal Muscle Leg	muscle
49	chr1:56561400-56562600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:56561400-56562600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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