Variant report

Variant	nsv830215
Chromosome Location	chr1:72869049-73029787
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:6)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:72900602..72902220-chr1:72902664..72904300,2	K562	blood:
2	chr1:72964126..72965885-chr1:72967402..72969838,2	K562	blood:
3	chr1:72940829..72943302-chr1:72953115..72955886,2	K562	blood:
4	chr1:72940829..72943302-chr1:72953115..72955886,2	K562	blood:
5	chr1:72964126..72965885-chr1:72967402..72969838,2	K562	blood:
6	chr1:72900602..72902220-chr1:72902664..72904300,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-12	chr1:73016544-73016628	NONHSAT003912
2	lnc-NEGR1-4	chr1:72935742-72936076	l_72_chr1:72935741-72937450_testes
3	lnc-FPGT-12	chr1:73021941-73022154	NONHSAT003912
4	lnc-NEGR1-4	chr1:72987437-72987547	l_72_chr1:72935741-72937450_testes
5	lnc-FPGT-12	chr1:73029336-73029551	NONHSAT003912
6	lnc-NEGR1-4	chr1:72987192-72987299	NONHSAT003911
7	lnc-FPGT-6	chr1:73020893-73021081	XLOC_000253
8	lnc-NEGR1-4	chr1:72939211-72939334	l_72_chr1:72935741-72937450_testes
9	lnc-FPGT-6	chr1:73023544-73023568	XLOC_000253
10	lnc-FPGT-12	chr1:73024898-73025252	NONHSAT003912
11	lnc-FPGT-12	chr1:73013542-73013815	NONHSAT003912
12	lnc-FPGT-6	chr1:73020892-73021081	NONHSAT003913
13	lnc-FPGT-12	chr1:73018378-73018564	NONHSAT003912
14	lnc-NEGR1-4	chr1:72937285-72937450	l_72_chr1:72935741-72937450_testes
15	lnc-NEGR1-4	chr1:73003139-73003208	l_72_chr1:72935741-72937450_testes
16	lnc-FPGT-6	chr1:73023543-73023568	NONHSAT003913
17	lnc-NEGR1-3	chr1:72970822-72971029	NONHSAT003910
18	lnc-NEGR1-3	chr1:72972500-72972595	NONHSAT003910
19	lnc-NEGR1-4	chr1:72987437-72987547	NONHSAT003911

No data

Extended variants
information (count: 3542 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3542 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79801922	chr1:72873801-72873802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546098558	chr1:72873811-72873812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34086087	chr1:72873822-72873823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17092623	chr1:72873828-72873829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573205485	chr1:72873829-72873830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541842139	chr1:72873838-72873839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372773106	chr1:72873852-72873853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537251	chr1:72873861-72873862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144062199	chr1:72873878-72873879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530904708	chr1:72873904-72873905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202138821	chr1:72873952-72873953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs290694	chr1:72873962-72873963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144832872	chr1:72874007-72874008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371161007	chr1:72874032-72874033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533110534	chr1:72874068-72874069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138648158	chr1:72874073-72874074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566623301	chr1:72874105-72874106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185803624	chr1:72874126-72874127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34254646	chr1:72874192-72874193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190604181	chr1:72874196-72874197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181183735	chr1:72874239-72874240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1838662	chr1:72874257-72874258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs12406365	chr1:72874258-72874259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186623444	chr1:72874341-72874342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184347093	chr1:72874348-72874349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553284725	chr1:72874369-72874370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143550351	chr1:72874380-72874381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190625510	chr1:72874389-72874390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555997159	chr1:72874441-72874442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2590943	chr1:72874456-72874457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs540208934	chr1:72874473-72874474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561719111	chr1:72874498-72874499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575550575	chr1:72874521-72874522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544718354	chr1:72874524-72874525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182864399	chr1:72874531-72874532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533181194	chr1:72874535-72874536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540414725	chr1:72874628-72874629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529006174	chr1:72874676-72874677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560426585	chr1:72874680-72874681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148042299	chr1:72874707-72874708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370788266	chr1:72874753-72874754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568769670	chr1:72874781-72874782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs511331	chr1:72874799-72874800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187784423	chr1:72874858-72874859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570994332	chr1:72874870-72874871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562741188	chr1:72874913-72874914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539671320	chr1:72874930-72874931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs482335	chr1:72874986-72874987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562515355	chr1:72875015-72875016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76073313	chr1:72875017-72875018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72873800-72877600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:72875600-72876000	ZNF genes & repeats	NHDF-Ad	bronchial
3	chr1:72876000-72878000	Weak transcription	NHDF-Ad	bronchial
4	chr1:72877200-72878600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:72877600-72878200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:72877600-72879000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:72877600-72879000	Enhancers	NHEK	skin
8	chr1:72877800-72878400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:72877800-72878600	Enhancers	Osteobl	bone
10	chr1:72877800-72879000	Enhancers	HMEC	breast
11	chr1:72878000-72879000	Enhancers	NHDF-Ad	bronchial
12	chr1:72878200-72878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:72878800-72879000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:72879000-72880200	Weak transcription	NHDF-Ad	bronchial
15	chr1:72880400-72880600	Enhancers	NHDF-Ad	bronchial
16	chr1:72886000-72886400	Active TSS	Hela-S3	cervix
17	chr1:72897200-72897800	Enhancers	NHDF-Ad	bronchial
18	chr1:72897200-72898000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:72897200-72898000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:72897400-72897800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:72897400-72898600	Enhancers	NHEK	skin
22	chr1:72897600-72897800	Enhancers	HMEC	breast
23	chr1:72897600-72897800	Enhancers	HSMM	muscle
24	chr1:72897600-72898600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:72897800-72900200	Weak transcription	HSMM	muscle
26	chr1:72898000-72900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:72898000-72901000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:72898600-72899000	Enhancers	GM12878-XiMat	blood
29	chr1:72898600-72904400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:72899000-72900200	Weak transcription	GM12878-XiMat	blood
31	chr1:72899800-72901000	Enhancers	HSMMtube	muscle
32	chr1:72900200-72901400	Enhancers	HSMM	muscle
33	chr1:72900400-72900600	Enhancers	GM12878-XiMat	blood
34	chr1:72900800-72901400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:72901000-72901200	Flanking Active TSS	HSMMtube	muscle
36	chr1:72901000-72901800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:72901200-72901400	Enhancers	HSMMtube	muscle
38	chr1:72901400-72903400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:72901400-72903800	Weak transcription	HSMM	muscle
40	chr1:72901800-72903600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:72903400-72906800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:72903600-72904400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:72903600-72905400	Enhancers	HUVEC	blood vessel
44	chr1:72903600-72906000	Enhancers	Osteobl	bone
45	chr1:72903800-72904000	Enhancers	HSMM	muscle
46	chr1:72903800-72904200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:72903800-72905400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:72904000-72904400	Weak transcription	HSMM	muscle
49	chr1:72904000-72905000	Enhancers	NHLF	lung
50	chr1:72904000-72905400	Enhancers	NHDF-Ad	bronchial

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