Variant report

Variant	nsv461617
Chromosome Location	chr1:56055190-56123510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:
2	chr1:56080025..56082249-chr1:56093163..56095810,2	K562	blood:
3	chr1:56080025..56082249-chr1:56093163..56095810,2	K562	blood:
4	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:
5	chr1:56091333..56093078-chr1:56095043..56097195,2	K562	blood:
6	chr1:56091333..56093078-chr1:56095043..56097195,2	K562	blood:
7	chr1:56119054..56121303-chr1:56122275..56124913,2	K562	blood:
8	chr1:56119054..56121303-chr1:56122275..56124913,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCSK9-3	chr1:56080594-56080675	ENSG00000234810
2	lnc-PCSK9-8	chr1:56062068-56062162	NONHSAT003418
3	lnc-PCSK9-8	chr1:56101193-56101320	NONHSAT003418
4	lnc-PCSK9-8	chr1:56085690-56085798	NONHSAT003418
5	lnc-PCSK9-8	chr1:56070525-56070686	NONHSAT003418
6	lnc-PCSK9-8	chr1:56106359-56106509	NONHSAT003418

No data

Extended variants
information (count: 2769 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2769 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6670673	chr1:56055190-56055191	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6681925	chr1:56055316-56055317	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs190749763	chr1:56055393-56055394	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565042169	chr1:56055426-56055427	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569733284	chr1:56055434-56055435	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530637653	chr1:56055442-56055443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1546245	chr1:56055448-56055449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560681344	chr1:56055449-56055450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs17416725	chr1:56055463-56055464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145600985	chr1:56055477-56055478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566142760	chr1:56055511-56055512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577274435	chr1:56055523-56055524	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570998960	chr1:56055532-56055533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184239263	chr1:56055537-56055538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114901063	chr1:56055551-56055552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148882590	chr1:56055573-56055574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186376011	chr1:56055592-56055593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190778943	chr1:56055613-56055614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535312888	chr1:56055615-56055616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568616149	chr1:56055626-56055627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183096429	chr1:56055661-56055662	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553418593	chr1:56055696-56055697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554166612	chr1:56055704-56055705	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577310379	chr1:56055709-56055710	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs115767759	chr1:56055740-56055741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558615554	chr1:56055758-56055759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574816453	chr1:56055788-56055789	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575377217	chr1:56055792-56055793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544126244	chr1:56055828-56055829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560642614	chr1:56055838-56055839	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs142605007	chr1:56055842-56055843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs17416739	chr1:56055848-56055849	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559691200	chr1:56055882-56055883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs376810901	chr1:56055945-56055946	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532028004	chr1:56055993-56055994	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs151283561	chr1:56055995-56055996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187430517	chr1:56056001-56056002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191804201	chr1:56056137-56056138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111620870	chr1:56056141-56056142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115353759	chr1:56056265-56056266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114992396	chr1:56056277-56056278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560780367	chr1:56056333-56056334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182942328	chr1:56056339-56056340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188044134	chr1:56056341-56056342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539478746	chr1:56056379-56056380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4926690	chr1:56056400-56056401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575493527	chr1:56056406-56056407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75258425	chr1:56056415-56056416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192227789	chr1:56056421-56056422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574315827	chr1:56056447-56056448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Soft tissue tumor	16732325	CNVD
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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Cancer	17160897	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
Gastric adenocarcinoma	19115996	CNVD
Parathyroid adenoma	22454399	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56050600-56055400	Weak transcription	Ovary	ovary
3	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
4	chr1:56051000-56055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:56051000-56055200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:56051000-56055800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:56051200-56055200	Weak transcription	Adipose Nuclei	Adipose
8	chr1:56051200-56055200	Weak transcription	HSMM	muscle
9	chr1:56051200-56055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:56051200-56057200	Weak transcription	Fetal Heart	heart
11	chr1:56051400-56055400	Weak transcription	NHLF	lung
12	chr1:56052600-56057800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:56052800-56055400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56052800-56055400	Weak transcription	Left Ventricle	heart
15	chr1:56052800-56055400	Weak transcription	Psoas Muscle	Psoas
16	chr1:56052800-56055400	Weak transcription	Right Atrium	heart
17	chr1:56052800-56060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:56053800-56056000	Enhancers	Fetal Stomach	stomach
19	chr1:56053800-56058400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:56053800-56058400	Enhancers	NHDF-Ad	bronchial
21	chr1:56054000-56055200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:56054000-56055800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:56054400-56055200	Enhancers	Osteobl	bone
24	chr1:56054400-56055600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:56054400-56059000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:56054600-56055400	Weak transcription	Fetal Lung	lung
27	chr1:56054600-56058000	Weak transcription	Aorta	Aorta
28	chr1:56055000-56055400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:56055000-56056200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:56055000-56056200	Enhancers	Fetal Muscle Leg	muscle
31	chr1:56055000-56056200	Enhancers	HMEC	breast
32	chr1:56055200-56055400	Enhancers	Fetal Kidney	kidney
33	chr1:56055200-56056000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:56055200-56056000	Flanking Active TSS	Osteobl	bone
35	chr1:56055200-56056200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:56055200-56056200	Enhancers	Adipose Nuclei	Adipose
37	chr1:56055200-56056200	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:56055200-56056200	Enhancers	HSMM	muscle
39	chr1:56055400-56055600	Enhancers	Left Ventricle	heart
40	chr1:56055400-56055600	Enhancers	Right Atrium	heart
41	chr1:56055400-56055800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:56055400-56056000	Enhancers	Fetal Lung	lung
43	chr1:56055400-56056000	Enhancers	Psoas Muscle	Psoas
44	chr1:56055400-56056200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:56055400-56056200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:56055400-56056200	Enhancers	NHLF	lung
47	chr1:56055400-56056400	Enhancers	Ovary	ovary
48	chr1:56055600-56056000	Weak transcription	Right Atrium	heart
49	chr1:56055600-56056200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:56055800-56056200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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