Variant report

Variant	nsv932
Chromosome Location	chr1:56816732-56842261
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	chr1:56820474..56822108-chr1:56824348..56827534,3	K562	blood:
2	chr1:56820474..56822108-chr1:56824348..56827534,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPAP2B-1	chr1:56840874-56840926	XLOC_000845

Extended variants
information (count: 804 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548891271	chr1:56816810-56816811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367590553	chr1:56816831-56816832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116486855	chr1:56816846-56816847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185167945	chr1:56816864-56816865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553900758	chr1:56816903-56816904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570876928	chr1:56816909-56816910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143448767	chr1:56816940-56816941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75744828	chr1:56816950-56816951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74913081	chr1:56816951-56816952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79294923	chr1:56816974-56816975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147162885	chr1:56817069-56817070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531375650	chr1:56817073-56817074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75169446	chr1:56817078-56817079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78563968	chr1:56817105-56817106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555993089	chr1:56817143-56817144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77628454	chr1:56817158-56817159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6680675	chr1:56817161-56817162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139978996	chr1:56817219-56817220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115770951	chr1:56817239-56817240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145528207	chr1:56817280-56817281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144341562	chr1:56817290-56817291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148780651	chr1:56817320-56817321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538633052	chr1:56817327-56817328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553527049	chr1:56817350-56817351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563119274	chr1:56817368-56817369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529086452	chr1:56817381-56817382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190807829	chr1:56817470-56817471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565936929	chr1:56817483-56817484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565654572	chr1:56817484-56817485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547761354	chr1:56817501-56817502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114968150	chr1:56817549-56817550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35979672	chr1:56817582-56817583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535990078	chr1:56817591-56817592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77358958	chr1:56817606-56817607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533423445	chr1:56817625-56817626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548890042	chr1:56817633-56817634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550333989	chr1:56817645-56817646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75033382	chr1:56817680-56817681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78200287	chr1:56817681-56817682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368848330	chr1:56817684-56817685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142454711	chr1:56817721-56817722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183053919	chr1:56817728-56817729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572662165	chr1:56817729-56817730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535045168	chr1:56817767-56817768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151333040	chr1:56817783-56817784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577245766	chr1:56817814-56817815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376933596	chr1:56817825-56817826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576723344	chr1:56817840-56817841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35993325	chr1:56817885-56817886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111319613	chr1:56817912-56817913	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:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56791200-56820800	Weak transcription	Aorta	Aorta
2	chr1:56806800-56818400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:56818200-56818600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56818200-56818600	Enhancers	Adipose Nuclei	Adipose
5	chr1:56818400-56818600	Enhancers	Fetal Muscle Leg	muscle
6	chr1:56818400-56818600	Enhancers	Left Ventricle	heart
7	chr1:56818400-56818600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:56818400-56819000	Enhancers	Psoas Muscle	Psoas
9	chr1:56818600-56819000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:56818600-56820600	Weak transcription	Left Ventricle	heart
11	chr1:56818800-56820800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:56819000-56819200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:56819000-56820600	Weak transcription	Psoas Muscle	Psoas
14	chr1:56819200-56820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:56820000-56820600	Enhancers	Fetal Heart	heart
16	chr1:56820600-56821000	Enhancers	Left Ventricle	heart
17	chr1:56820600-56821000	Enhancers	Psoas Muscle	Psoas
18	chr1:56820600-56821400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:56820600-56821400	Flanking Active TSS	Fetal Heart	heart
20	chr1:56820600-56821600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:56820600-56822200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:56820600-56822400	Enhancers	HSMMtube	muscle
23	chr1:56820600-56825400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:56820600-56826400	Enhancers	Fetal Muscle Leg	muscle
25	chr1:56820800-56821200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:56820800-56821400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:56820800-56821400	Enhancers	Aorta	Aorta
28	chr1:56820800-56821600	Enhancers	HSMM	muscle
29	chr1:56820800-56822000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:56821000-56821400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:56821000-56822000	Weak transcription	Left Ventricle	heart
32	chr1:56821000-56822000	Weak transcription	Psoas Muscle	Psoas
33	chr1:56821200-56821400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:56821200-56821600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:56821200-56821600	Enhancers	NH-A	brain
36	chr1:56821200-56822200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:56821400-56821600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr1:56821400-56824400	Enhancers	Fetal Heart	heart
39	chr1:56821400-56824800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:56821600-56822000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:56821800-56822400	Enhancers	Right Ventricle	heart
42	chr1:56821800-56822800	Enhancers	Placenta	Placenta
43	chr1:56822000-56822200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:56822000-56822800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:56822000-56823200	Enhancers	Right Atrium	heart
46	chr1:56822000-56823800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:56822000-56824200	Enhancers	Left Ventricle	heart
48	chr1:56822000-56825400	Enhancers	Psoas Muscle	Psoas
49	chr1:56822200-56822400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:56822200-56823400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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