Variant report

Variant	nsv871758
Chromosome Location	chr1:72861847-72995398
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:7)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 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	chr1:72964126..72965885-chr1:72967402..72969838,2	K562	blood:
5	chr1:72863619..72864264-chr11:65396606..65397388,2	MCF-7	breast:
6	chr1:72900602..72902220-chr1:72902664..72904300,2	K562	blood:
7	chr1:72940829..72943302-chr1:72953115..72955886,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEGR1-4	chr1:72987437-72987547	l_72_chr1:72935741-72937450_testes
2	lnc-NEGR1-3	chr1:72972500-72972595	NONHSAT003910
3	lnc-NEGR1-4	chr1:72939211-72939334	l_72_chr1:72935741-72937450_testes
4	lnc-NEGR1-3	chr1:72970822-72971029	NONHSAT003910
5	lnc-NEGR1-4	chr1:72935742-72936076	l_72_chr1:72935741-72937450_testes
6	lnc-NEGR1-4	chr1:72937285-72937450	l_72_chr1:72935741-72937450_testes
7	lnc-NEGR1-4	chr1:72987437-72987547	NONHSAT003911
8	lnc-NEGR1-4	chr1:72987192-72987299	NONHSAT003911

No data

Extended variants
information (count: 3050 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3050 , 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	rs576790514	chr1:72862814-72862815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181191590	chr1:72862827-72862828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534343543	chr1:72862850-72862851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566621730	chr1:72862863-72862864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554526679	chr1:72862904-72862905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77229572	chr1:72862968-72862969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185795942	chr1:72862971-72862972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536682092	chr1:72862997-72862998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539306195	chr1:72863006-72863007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554138356	chr1:72863066-72863067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1824530	chr1:72863102-72863103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs188161273	chr1:72863129-72863130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12409327	chr1:72863137-72863138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139277120	chr1:72863141-72863142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540797496	chr1:72863142-72863143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368148261	chr1:72863144-72863145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112756854	chr1:72863278-72863279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180919102	chr1:72863292-72863293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186292104	chr1:72863293-72863294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563133407	chr1:72863306-72863307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532274246	chr1:72863337-72863338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371299508	chr1:72863358-72863359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551989436	chr1:72863379-72863380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114622740	chr1:72863470-72863471	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142570171	chr1:72863517-72863518	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538221796	chr1:72863527-72863528	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567989874	chr1:72863534-72863535	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116007788	chr1:72863538-72863539	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556564394	chr1:72863554-72863555	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569961907	chr1:72863625-72863626	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs191957890	chr1:72863668-72863669	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558803382	chr1:72863714-72863715	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561475751	chr1:72863718-72863719	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572171366	chr1:72863735-72863736	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs140075591	chr1:72863759-72863760	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554320943	chr1:72863827-72863828	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs151243308	chr1:72863829-72863830	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114185138	chr1:72863838-72863839	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563557419	chr1:72863894-72863895	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576786025	chr1:72863897-72863898	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116110330	chr1:72863898-72863899	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs4650133	chr1:72863906-72863907	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs528174494	chr1:72863954-72863955	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139260448	chr1:72864029-72864030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184217033	chr1:72864102-72864103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186652912	chr1:72864169-72864170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75623552	chr1:72864216-72864217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570299339	chr1:72864223-72864224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538669719	chr1:72864244-72864245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565261223	chr1:72864246-72864247	Enhancers	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:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72862800-72863400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:72863000-72865200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:72863400-72863600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:72863400-72863800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:72863400-72863800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:72863400-72863800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:72863400-72863800	Enhancers	Ovary	ovary
8	chr1:72863400-72863800	Enhancers	HMEC	breast
9	chr1:72863400-72863800	Enhancers	NHDF-Ad	bronchial
10	chr1:72863400-72863800	Enhancers	Osteobl	bone
11	chr1:72863400-72864000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:72863400-72864600	Enhancers	HSMM	muscle
13	chr1:72863600-72863800	Enhancers	Gastric	stomach
14	chr1:72863600-72863800	Enhancers	HSMMtube	muscle
15	chr1:72863600-72864000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:72863600-72864000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:72863600-72864000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:72863600-72864000	Enhancers	NH-A	brain
19	chr1:72863600-72864200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:72863800-72864600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:72864000-72864400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:72864600-72868400	Weak transcription	HSMM	muscle
23	chr1:72873800-72877600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:72875600-72876000	ZNF genes & repeats	NHDF-Ad	bronchial
25	chr1:72876000-72878000	Weak transcription	NHDF-Ad	bronchial
26	chr1:72877200-72878600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:72877600-72878200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:72877600-72879000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:72877600-72879000	Enhancers	NHEK	skin
30	chr1:72877800-72878400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:72877800-72878600	Enhancers	Osteobl	bone
32	chr1:72877800-72879000	Enhancers	HMEC	breast
33	chr1:72878000-72879000	Enhancers	NHDF-Ad	bronchial
34	chr1:72878200-72878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:72878800-72879000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:72879000-72880200	Weak transcription	NHDF-Ad	bronchial
37	chr1:72880400-72880600	Enhancers	NHDF-Ad	bronchial
38	chr1:72886000-72886400	Active TSS	Hela-S3	cervix
39	chr1:72897200-72897800	Enhancers	NHDF-Ad	bronchial
40	chr1:72897200-72898000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:72897200-72898000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:72897400-72897800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:72897400-72898600	Enhancers	NHEK	skin
44	chr1:72897600-72897800	Enhancers	HMEC	breast
45	chr1:72897600-72897800	Enhancers	HSMM	muscle
46	chr1:72897600-72898600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:72897800-72900200	Weak transcription	HSMM	muscle
48	chr1:72898000-72900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:72898000-72901000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:72898600-72899000	Enhancers	GM12878-XiMat	blood

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