Variant report

Variant	nsv947261
Chromosome Location	chr1:56328792-56335482
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	chr1:56323265..56326203-chr1:56327574..56329306,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCSK9-4	chr1:56333771-56333921	XLOC_000207
2	lnc-PCSK9-4	chr1:56333770-56333921	NONHSAT003421

Variant related genes	Relation type
BMF	miRNA target sites

Extended variants
information (count: 267 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146382423	chr1:56328797-56328798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11578498	chr1:56328802-56328803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11586123	chr1:56328822-56328823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559228759	chr1:56328839-56328840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75810697	chr1:56328842-56328843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554435064	chr1:56328881-56328882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542353055	chr1:56328895-56328896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551574408	chr1:56328923-56328924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571379936	chr1:56328931-56328932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142114691	chr1:56328933-56328934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10493184	chr1:56328941-56328942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191136870	chr1:56328944-56328945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149376646	chr1:56328945-56328946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536258205	chr1:56328951-56328952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552964704	chr1:56328973-56328974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561143533	chr1:56328998-56328999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78358765	chr1:56329007-56329008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74072517	chr1:56329010-56329011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559184447	chr1:56329013-56329014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74072518	chr1:56329037-56329038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184811433	chr1:56329040-56329041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534951033	chr1:56329068-56329069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561048367	chr1:56329106-56329107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574548168	chr1:56329121-56329122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540245101	chr1:56329139-56329140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560258765	chr1:56329142-56329143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532515208	chr1:56329144-56329145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377436487	chr1:56329161-56329162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551419120	chr1:56329207-56329208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565175550	chr1:56329215-56329216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530665158	chr1:56329234-56329235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550750037	chr1:56329236-56329237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567379374	chr1:56329238-56329239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531817349	chr1:56329266-56329267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536319426	chr1:56329282-56329283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531189211	chr1:56329318-56329319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144754645	chr1:56329327-56329328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111704194	chr1:56329364-56329365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6660791	chr1:56329365-56329366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181893055	chr1:56329429-56329430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569485517	chr1:56329502-56329503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148030156	chr1:56329505-56329506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77139731	chr1:56329535-56329536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565539132	chr1:56329561-56329562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574611520	chr1:56329604-56329605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540355750	chr1:56329672-56329673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554223472	chr1:56329717-56329718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577207968	chr1:56329793-56329794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141746021	chr1:56329794-56329795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186926348	chr1:56329822-56329823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56322400-56333400	Weak transcription	Psoas Muscle	Psoas
2	chr1:56326000-56331800	Weak transcription	Placenta	Placenta
3	chr1:56326000-56342000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:56326600-56331200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:56326600-56333200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:56327000-56333600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:56327200-56332200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:56327600-56329400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:56328400-56331800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:56329400-56330600	Enhancers	Fetal Intestine Small	intestine
11	chr1:56330600-56332800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:56331200-56332000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:56331400-56332400	Weak transcription	NHDF-Ad	bronchial
14	chr1:56331800-56333800	Enhancers	Placenta	Placenta
15	chr1:56331800-56336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:56332000-56333600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:56332200-56334000	Enhancers	Fetal Intestine Large	intestine
18	chr1:56332400-56339200	Enhancers	NHDF-Ad	bronchial
19	chr1:56332800-56333000	Enhancers	Aorta	Aorta
20	chr1:56332800-56333000	Enhancers	Fetal Intestine Small	intestine
21	chr1:56332800-56334000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:56333000-56333400	Weak transcription	Fetal Intestine Small	intestine
23	chr1:56333000-56333600	Weak transcription	Aorta	Aorta
24	chr1:56333000-56333800	Enhancers	Colon Smooth Muscle	Colon
25	chr1:56333000-56334400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:56333000-56335200	Enhancers	Fetal Kidney	kidney
27	chr1:56333200-56333400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:56333200-56336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:56333200-56336400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:56333400-56333600	Enhancers	Fetal Intestine Small	intestine
31	chr1:56333400-56333800	Enhancers	Psoas Muscle	Psoas
32	chr1:56333400-56334000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:56333400-56334600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:56333400-56336600	Enhancers	Osteobl	bone
35	chr1:56333600-56333800	Enhancers	Aorta	Aorta
36	chr1:56333600-56333800	Enhancers	Fetal Muscle Leg	muscle
37	chr1:56333600-56334000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:56333600-56334000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:56333600-56334200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:56333600-56334400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:56333600-56336000	Weak transcription	Fetal Intestine Small	intestine
42	chr1:56333600-56336200	Enhancers	Fetal Heart	heart
43	chr1:56333600-56336400	Enhancers	NHLF	lung
44	chr1:56333800-56334600	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:56333800-56334600	Weak transcription	Psoas Muscle	Psoas
46	chr1:56333800-56334800	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:56333800-56334800	Weak transcription	Placenta	Placenta
48	chr1:56333800-56340000	Weak transcription	Aorta	Aorta
49	chr1:56334000-56335200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:56334000-56336000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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