Variant report

Variant	nsv1015037
Chromosome Location	chr1:56784322-56814739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56791612..56794231-chr1:56795931..56797660,2	K562	blood:
2	chr1:56781396..56783782-chr1:56786454..56788115,2	MCF-7	breast:
3	chr1:56777835..56779614-chr1:56782621..56785140,2	K562	blood:
4	chr1:56791612..56794231-chr1:56795931..56797660,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPAP2B-1	chr1:56797824-56798078	XLOC_000845

Extended variants
information (count: 1298 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3005893	chr1:56784322-56784323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573401178	chr1:56784344-56784345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545538140	chr1:56784371-56784372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116775383	chr1:56784390-56784391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183101351	chr1:56784402-56784403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551211137	chr1:56784403-56784404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146148368	chr1:56784439-56784440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529632363	chr1:56784440-56784441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368268468	chr1:56784444-56784445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377207528	chr1:56784486-56784487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570762836	chr1:56784500-56784501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12756361	chr1:56784562-56784563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566208595	chr1:56784641-56784642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563741029	chr1:56784700-56784701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3005894	chr1:56784762-56784763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140189585	chr1:56784763-56784764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568986624	chr1:56784767-56784768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186354108	chr1:56784774-56784775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143560888	chr1:56784779-56784780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568295914	chr1:56784783-56784784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555705334	chr1:56784948-56784949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536625339	chr1:56784990-56784991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146789001	chr1:56785030-56785031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573291878	chr1:56785058-56785059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76404615	chr1:56785069-56785070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558788681	chr1:56785097-56785098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3005895	chr1:56785137-56785138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544519220	chr1:56785158-56785159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190289913	chr1:56785201-56785202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530355246	chr1:56785209-56785210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202158316	chr1:56785237-56785238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200447598	chr1:56785238-56785239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386631408	chr1:56785239-56785240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35551595	chr1:56785240-56785241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs66795700	chr1:56785241-56785242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559676999	chr1:56785279-56785280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2994554	chr1:56785356-56785357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552245841	chr1:56785384-56785385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111831380	chr1:56785452-56785453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115516628	chr1:56785628-56785629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142867179	chr1:56785629-56785630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187476220	chr1:56785660-56785661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540615556	chr1:56785709-56785710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151070079	chr1:56785710-56785711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554119643	chr1:56785727-56785728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192384748	chr1:56785770-56785771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565622462	chr1:56785786-56785787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3005896	chr1:56785831-56785832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs536189604	chr1:56785851-56785852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140819904	chr1:56785857-56785858	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56757800-56786000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:56765200-56795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56768200-56791000	Weak transcription	Aorta	Aorta
4	chr1:56769600-56788000	Weak transcription	Right Atrium	heart
5	chr1:56770000-56791200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:56770400-56792200	Weak transcription	Right Ventricle	heart
7	chr1:56770600-56786600	Weak transcription	Left Ventricle	heart
8	chr1:56780200-56785600	Weak transcription	Fetal Lung	lung
9	chr1:56780200-56786200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:56780200-56786600	Weak transcription	Psoas Muscle	Psoas
11	chr1:56780400-56793600	Weak transcription	Liver	Liver
12	chr1:56781800-56791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:56782000-56797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:56782600-56785600	Weak transcription	Fetal Heart	heart
15	chr1:56782600-56786200	Weak transcription	Fetal Stomach	stomach
16	chr1:56783400-56785000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:56784200-56784400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:56784200-56788000	Enhancers	NHDF-Ad	bronchial
19	chr1:56784200-56791000	Weak transcription	Ovary	ovary
20	chr1:56784200-56792200	Weak transcription	Lung	lung
21	chr1:56784400-56785600	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:56785000-56786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:56785600-56787000	Enhancers	Fetal Lung	lung
24	chr1:56785600-56787200	Enhancers	Fetal Muscle Leg	muscle
25	chr1:56785600-56787400	Enhancers	Fetal Heart	heart
26	chr1:56785800-56787000	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:56786000-56786600	Enhancers	Adipose Nuclei	Adipose
28	chr1:56786000-56787000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:56786200-56786800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:56786200-56787000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:56786200-56787000	Enhancers	Fetal Stomach	stomach
32	chr1:56786200-56787000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:56786400-56787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:56786600-56787000	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:56786600-56787000	Enhancers	Left Ventricle	heart
36	chr1:56786600-56787400	Enhancers	Psoas Muscle	Psoas
37	chr1:56786800-56788000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:56787000-56788000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:56787000-56789800	Weak transcription	Fetal Lung	lung
40	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
41	chr1:56787200-56800600	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:56787400-56787800	Weak transcription	Psoas Muscle	Psoas
43	chr1:56787400-56791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:56787400-56793000	Weak transcription	Fetal Heart	heart
45	chr1:56787800-56788400	Enhancers	Psoas Muscle	Psoas
46	chr1:56788000-56788200	Enhancers	Right Atrium	heart
47	chr1:56788000-56788400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:56788000-56788800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:56788000-56791000	Weak transcription	NHDF-Ad	bronchial
50	chr1:56788400-56791400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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