Variant report

Variant	nsv1011087
Chromosome Location	chr1:62059660-62082800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62047487..62049593-chr1:62067575..62070269,2	K562	blood:
2	chr1:62077080..62079264-chr1:62093660..62096602,2	K562	blood:
3	chr1:62078266..62080827-chr1:62086486..62088051,2	K562	blood:
4	chr1:62078897..62080421-chr1:62179528..62181828,2	K562	blood:
5	chr1:61949657..61951267-chr1:62070841..62073527,2	K562	blood:

Variant related genes	Relation type
ENSG00000264551	chromatin interactions

Extended variants
information (count: 832 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10493308	chr1:62059660-62059661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543667853	chr1:62059687-62059688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113227516	chr1:62059711-62059712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532668049	chr1:62059721-62059722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386631698	chr1:62059779-62059780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11207781	chr1:62059780-62059781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530083039	chr1:62059846-62059847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142003488	chr1:62059847-62059848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570087205	chr1:62060021-62060022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559011196	chr1:62060032-62060033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74432282	chr1:62060084-62060085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185920393	chr1:62060095-62060096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140675683	chr1:62060130-62060131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374819261	chr1:62060131-62060132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386631699	chr1:62060132-62060133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2365265	chr1:62060133-62060134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2365266	chr1:62060136-62060137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57717680	chr1:62060137-62060138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373564074	chr1:62060138-62060139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60147068	chr1:62060139-62060140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376604869	chr1:62060204-62060205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386631700	chr1:62060205-62060206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59587462	chr1:62060207-62060208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2365269	chr1:62060213-62060214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545210747	chr1:62060272-62060273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17122460	chr1:62060287-62060288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs116743197	chr1:62060313-62060314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190790580	chr1:62060337-62060338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554513484	chr1:62060355-62060356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182471859	chr1:62060406-62060407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2365270	chr1:62060407-62060408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs187862759	chr1:62060446-62060447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577062595	chr1:62060596-62060597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541223342	chr1:62060634-62060635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561181390	chr1:62060650-62060651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191175913	chr1:62060660-62060661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530404797	chr1:62060681-62060682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371205943	chr1:62060686-62060687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575082883	chr1:62060700-62060701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548309063	chr1:62060806-62060807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182959411	chr1:62060821-62060822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187592486	chr1:62060842-62060843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552602410	chr1:62060855-62060856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4915759	chr1:62060860-62060861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538885788	chr1:62060884-62060885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547595412	chr1:62060898-62060899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565994059	chr1:62060908-62060909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563965250	chr1:62060922-62060923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565376540	chr1:62060949-62060950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531114228	chr1:62060971-62060972	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Papillary thyroid carcinoma	21436994	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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62055400-62060800	Weak transcription	Esophagus	oesophagus
2	chr1:62059400-62059800	Enhancers	HMEC	breast
3	chr1:62059600-62059800	Enhancers	NHEK	skin
4	chr1:62059600-62060000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:62060400-62060800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:62060800-62061000	Enhancers	Esophagus	oesophagus
7	chr1:62060800-62061000	Enhancers	Psoas Muscle	Psoas
8	chr1:62061000-62062200	Weak transcription	Psoas Muscle	Psoas
9	chr1:62062200-62062400	ZNF genes & repeats	Psoas Muscle	Psoas
10	chr1:62062400-62071400	Weak transcription	Psoas Muscle	Psoas
11	chr1:62066200-62066800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:62066800-62069000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:62068800-62071800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:62069000-62069200	Enhancers	Fetal Stomach	stomach
15	chr1:62069000-62070200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:62069000-62070600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:62069000-62071800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:62069000-62071800	Enhancers	NHEK	skin
19	chr1:62069000-62073200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:62069200-62071400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:62069400-62069600	Enhancers	Colon Smooth Muscle	Colon
22	chr1:62069400-62072600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:62069600-62070400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:62069600-62071800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:62069800-62070000	Enhancers	Fetal Stomach	stomach
26	chr1:62069800-62071400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:62069800-62071400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:62069800-62072000	Enhancers	HMEC	breast
29	chr1:62070200-62070400	Enhancers	HSMM	muscle
30	chr1:62070200-62071000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:62070400-62070600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:62070400-62071400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:62070400-62071400	Weak transcription	HSMM	muscle
34	chr1:62070400-62071800	Enhancers	Osteobl	bone
35	chr1:62070400-62072600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:62070400-62073400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:62070600-62071000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:62070800-62072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:62070800-62072000	Enhancers	HUVEC	blood vessel
40	chr1:62070800-62073000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:62071000-62071400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:62071000-62071400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:62071400-62071600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:62071400-62071600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:62071400-62071600	Enhancers	Psoas Muscle	Psoas
46	chr1:62071400-62071600	Enhancers	Right Atrium	heart
47	chr1:62071400-62072000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:62071400-62072000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:62071400-62072000	Enhancers	HSMM	muscle
50	chr1:62071400-62072000	Enhancers	HSMMtube	muscle

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