Variant report

Variant	nsv1014866
Chromosome Location	chr1:56059054-56129092
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	chr1:56091333..56093078-chr1:56095043..56097195,2	K562	blood:
2	chr1:56080025..56082249-chr1:56093163..56095810,2	K562	blood:
3	chr1:56119054..56121303-chr1:56122275..56124913,2	K562	blood:
4	chr1:56091333..56093078-chr1:56095043..56097195,2	K562	blood:
5	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:
6	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:
7	chr1:56080025..56082249-chr1:56093163..56095810,2	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-PCSK9-8	chr1:56106359-56106509	NONHSAT003418
2	lnc-PCSK9-8	chr1:56070525-56070686	NONHSAT003418
3	lnc-PCSK9-8	chr1:56085690-56085798	NONHSAT003418
4	lnc-PCSK9-3	chr1:56080594-56080675	ENSG00000234810
5	lnc-PCSK9-8	chr1:56062068-56062162	NONHSAT003418
6	lnc-PCSK9-8	chr1:56101193-56101320	NONHSAT003418

No data

Extended variants
information (count: 3044 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3044 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12117758	chr1:56059054-56059055	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144780154	chr1:56059060-56059061	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148019652	chr1:56059179-56059180	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565664964	chr1:56059192-56059193	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534643430	chr1:56059201-56059202	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7526426	chr1:56059223-56059224	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578225609	chr1:56059249-56059250	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7548272	chr1:56059283-56059284	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs557085217	chr1:56059297-56059298	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374659475	chr1:56059338-56059339	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186241658	chr1:56059394-56059395	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542674463	chr1:56059395-56059396	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553082386	chr1:56059405-56059406	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573131014	chr1:56059411-56059412	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6588567	chr1:56059425-56059426	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs528525242	chr1:56059441-56059442	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191555751	chr1:56059478-56059479	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183372355	chr1:56059503-56059504	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371850644	chr1:56059504-56059505	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375474187	chr1:56059510-56059511	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143529900	chr1:56059515-56059516	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563442125	chr1:56059561-56059562	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147156323	chr1:56059678-56059679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535740802	chr1:56059694-56059695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549078525	chr1:56059709-56059710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565828164	chr1:56059798-56059799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71637896	chr1:56059842-56059843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187909402	chr1:56059858-56059859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72667893	chr1:56059888-56059889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568886587	chr1:56059890-56059891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571158340	chr1:56059903-56059904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2047543	chr1:56059913-56059914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs144176063	chr1:56059958-56059959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558147331	chr1:56059972-56059973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377682065	chr1:56060013-56060014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191281702	chr1:56060027-56060028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553045553	chr1:56060058-56060059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60190395	chr1:56060061-56060062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1165456	chr1:56060062-56060063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558886232	chr1:56060153-56060154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558189916	chr1:56060179-56060180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139191639	chr1:56060199-56060200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543726241	chr1:56060244-56060245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149942050	chr1:56060250-56060251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529098073	chr1:56060263-56060264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542886145	chr1:56060277-56060278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182268911	chr1:56060304-56060305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11577328	chr1:56060308-56060309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534303988	chr1:56060369-56060370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571187277	chr1:56060478-56060479	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

Chromatin state (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56052800-56060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56056000-56066000	Weak transcription	Fetal Lung	lung
3	chr1:56056200-56062400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:56057200-56059200	Enhancers	Right Atrium	heart
5	chr1:56058000-56059800	Enhancers	Fetal Stomach	stomach
6	chr1:56058600-56059400	Weak transcription	Aorta	Aorta
7	chr1:56058600-56060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:56059000-56059600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:56059200-56059400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:56059400-56059600	Enhancers	Aorta	Aorta
11	chr1:56059600-56076000	Weak transcription	Aorta	Aorta
12	chr1:56059800-56060200	Weak transcription	Fetal Stomach	stomach
13	chr1:56060200-56060800	Enhancers	Fetal Stomach	stomach
14	chr1:56060400-56060600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:56060400-56060600	Enhancers	Lung	lung
16	chr1:56060400-56061000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:56060600-56061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:56062400-56063200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:56063200-56089000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:56065600-56066800	Enhancers	NHDF-Ad	bronchial
21	chr1:56065600-56067000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:56065600-56067000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:56065600-56067400	Enhancers	Ovary	ovary
24	chr1:56066000-56067200	Enhancers	Fetal Lung	lung
25	chr1:56066200-56066600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:56066200-56066800	Enhancers	Fetal Stomach	stomach
27	chr1:56066400-56066800	Enhancers	Fetal Kidney	kidney
28	chr1:56066600-56067400	Enhancers	Fetal Intestine Large	intestine
29	chr1:56066800-56067800	Weak transcription	Fetal Kidney	kidney
30	chr1:56066800-56068400	Weak transcription	NHDF-Ad	bronchial
31	chr1:56067000-56067400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:56067000-56069800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:56067400-56069400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:56067400-56071200	Weak transcription	Ovary	ovary
35	chr1:56068400-56068600	Enhancers	Fetal Kidney	kidney
36	chr1:56068400-56068600	Enhancers	NHDF-Ad	bronchial
37	chr1:56068400-56068800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:56068600-56069200	Weak transcription	NHDF-Ad	bronchial
39	chr1:56069200-56070800	Enhancers	NHDF-Ad	bronchial
40	chr1:56069400-56069600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:56069600-56070000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:56069600-56071400	Enhancers	Fetal Heart	heart
43	chr1:56069600-56072000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:56069800-56070800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:56069800-56071000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:56070000-56070200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:56070000-56070200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:56070000-56070600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:56070000-56071600	Enhancers	Adipose Nuclei	Adipose
50	chr1:56070200-56076200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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