Variant report

Variant	nsv1006422
Chromosome Location	chr1:56734772-56828606
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:55933029..55935882-chr1:56759713..56761736,2	K562	blood:
2	chr1:56820474..56822108-chr1:56824348..56827534,3	K562	blood:
3	chr1:56820474..56822108-chr1:56824348..56827534,3	K562	blood:
4	chr1:56764262..56765836-chr1:56767748..56769368,2	MCF-7	breast:
5	chr1:56765576..56767603-chr1:56768909..56770927,2	K562	blood:
6	chr1:56764262..56765836-chr1:56767748..56769368,2	MCF-7	breast:
7	chr1:56777835..56779614-chr1:56782621..56785140,2	K562	blood:
8	chr1:56777835..56779614-chr1:56782621..56785140,2	K562	blood:
9	chr1:56791612..56794231-chr1:56795931..56797660,2	K562	blood:
10	chr1:56791612..56794231-chr1:56795931..56797660,2	K562	blood:
11	chr1:56781396..56783782-chr1:56786454..56788115,2	MCF-7	breast:
12	chr1:56765576..56767603-chr1:56768909..56770927,2	K562	blood:
13	chr1:56781396..56783782-chr1:56786454..56788115,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 3351 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3351 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533172430	chr1:56743603-56743604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543282127	chr1:56743609-56743610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563584142	chr1:56743610-56743611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2096085	chr1:56743630-56743631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545510801	chr1:56743652-56743653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148213450	chr1:56743672-56743673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184529612	chr1:56743780-56743781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527749339	chr1:56743788-56743789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547886700	chr1:56743805-56743806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187756944	chr1:56743808-56743809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372758670	chr1:56743823-56743824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557407713	chr1:56743827-56743828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141207163	chr1:56743837-56743838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75782855	chr1:56743916-56743917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193144896	chr1:56743932-56743933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2404524	chr1:56744006-56744007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35004166	chr1:56744024-56744025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150656607	chr1:56744112-56744113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2105301	chr1:56744121-56744122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577699857	chr1:56744142-56744143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543596003	chr1:56744188-56744189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563383277	chr1:56744201-56744202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529156914	chr1:56744245-56744246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542955787	chr1:56744274-56744275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571105882	chr1:56744293-56744294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140126164	chr1:56744472-56744473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2096086	chr1:56744527-56744528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs371759575	chr1:56744531-56744532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370241830	chr1:56744549-56744550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570913512	chr1:56744600-56744601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533308304	chr1:56744614-56744615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374921369	chr1:56744618-56744619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550300278	chr1:56744643-56744644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569924391	chr1:56744662-56744663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184417690	chr1:56744697-56744698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555661617	chr1:56744707-56744708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566059600	chr1:56744767-56744768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534596829	chr1:56744776-56744777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189292282	chr1:56744830-56744831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143849434	chr1:56744904-56744905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543157651	chr1:56744968-56744969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146388112	chr1:56744970-56744971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1581995	chr1:56745004-56745005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368258145	chr1:56745069-56745070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139766302	chr1:56745083-56745084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112460071	chr1:56745088-56745089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181169998	chr1:56745121-56745122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573212339	chr1:56745133-56745134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144186774	chr1:56745136-56745137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114812496	chr1:56745181-56745182	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56743600-56743800	Enhancers	Fetal Stomach	stomach
2	chr1:56743600-56745200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:56744400-56744600	Enhancers	Fetal Stomach	stomach
4	chr1:56745200-56745400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:56745400-56757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:56748200-56748400	Enhancers	Aorta	Aorta
7	chr1:56748400-56759600	Weak transcription	Aorta	Aorta
8	chr1:56750000-56752200	Enhancers	HepG2	liver
9	chr1:56750000-56753400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:56750200-56750400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:56750200-56750400	Enhancers	Right Atrium	heart
12	chr1:56750200-56750800	Enhancers	A549	lung
13	chr1:56750200-56751000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:56750200-56752000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:56750200-56752000	Enhancers	HSMMtube	muscle
16	chr1:56750200-56752200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:56750200-56752200	Enhancers	Left Ventricle	heart
18	chr1:56750200-56752600	Enhancers	Fetal Muscle Leg	muscle
19	chr1:56750200-56752800	Enhancers	Adipose Nuclei	Adipose
20	chr1:56750200-56752800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:56750200-56753000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:56750400-56751000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:56750400-56751200	Weak transcription	Right Atrium	heart
24	chr1:56750600-56751200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:56750600-56751200	Enhancers	Fetal Lung	lung
26	chr1:56750600-56751400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:56750800-56751400	Enhancers	Colon Smooth Muscle	Colon
28	chr1:56750800-56751400	Flanking Active TSS	A549	lung
29	chr1:56750800-56752000	Enhancers	HUVEC	blood vessel
30	chr1:56751000-56751800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:56751000-56751800	Enhancers	Lung	lung
32	chr1:56751000-56752000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:56751000-56752000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:56751000-56752000	Enhancers	Fetal Stomach	stomach
35	chr1:56751000-56752200	Enhancers	Dnd41	blood
36	chr1:56751000-56752800	Enhancers	Psoas Muscle	Psoas
37	chr1:56751000-56753000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:56751000-56753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:56751000-56753600	Enhancers	Placenta	Placenta
40	chr1:56751000-56753600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:56751200-56751400	Enhancers	Pancreas	Pancrea
42	chr1:56751200-56752000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:56751200-56752000	Enhancers	Fetal Thymus	thymus
44	chr1:56751200-56752800	Enhancers	Right Atrium	heart
45	chr1:56751200-56753400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:56751200-56753400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:56751200-56756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:56751400-56751600	Enhancers	A549	lung
49	chr1:56751400-56756800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:56751400-56757600	Weak transcription	Pancreas	Pancrea

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