Variant report

Variant	nsv1577
Chromosome Location	chr1:79013311-79058575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78596135..78597095-chr1:79035945..79036466,2	MCF-7	breast:
2	chr1:79052499..79054076-chr1:79055755..79058043,2	K562	blood:
3	chr1:79052499..79054076-chr1:79055755..79058043,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELTD1-6	chr1:79034380-79034524	ENSG00000249107

Variant related genes	Relation type
HMGA2	miRNA target sites

Extended variants
information (count: 643 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570040981	chr1:79014402-79014403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537332014	chr1:79014449-79014450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200525751	chr1:79014474-79014475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549351381	chr1:79014479-79014480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191458415	chr1:79014519-79014520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183804322	chr1:79014527-79014528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187036604	chr1:79014561-79014562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534859301	chr1:79014570-79014571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75573143	chr1:79014603-79014604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577778097	chr1:79014628-79014629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538661239	chr1:79014672-79014673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76048863	chr1:79014682-79014683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144080273	chr1:79014704-79014705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111561723	chr1:79014716-79014717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193041283	chr1:79014719-79014720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80131418	chr1:79014741-79014742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535722366	chr1:79014754-79014755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201824929	chr1:79014764-79014765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377192176	chr1:79014765-79014766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185252710	chr1:79014766-79014767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190345041	chr1:79014777-79014778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76072020	chr1:79014794-79014795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182028380	chr1:79014821-79014822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185081186	chr1:79014830-79014831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563331951	chr1:79014841-79014842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12071714	chr1:79014843-79014844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549656360	chr1:79014881-79014882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148538010	chr1:79014897-79014898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375614131	chr1:79014910-79014911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546851155	chr1:79014920-79014921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61769144	chr1:79014926-79014927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571396601	chr1:79014932-79014933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12751216	chr1:79014981-79014982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369416967	chr1:79014982-79014983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575311183	chr1:79015004-79015005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188279091	chr1:79015030-79015031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113669306	chr1:79015032-79015033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573022766	chr1:79015040-79015041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540447261	chr1:79015042-79015043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564721568	chr1:79015044-79015045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556973271	chr1:79015055-79015056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545095276	chr1:79015082-79015083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376814286	chr1:79015107-79015108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180895404	chr1:79015121-79015122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549075443	chr1:79015127-79015128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561647874	chr1:79015183-79015184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139164067	chr1:79015237-79015238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144143258	chr1:79015246-79015247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571863615	chr1:79015308-79015309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576948468	chr1:79015313-79015314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79014400-79015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:79015600-79016000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:79017800-79018200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:79018800-79019600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:79019200-79019800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:79026000-79028600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:79026200-79026400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:79027200-79027800	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:79028000-79028400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:79035000-79035400	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:79041400-79041600	Enhancers	Rectal Smooth Muscle	rectum
12	chr1:79041600-79042800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:79042800-79043200	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:79042800-79043400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:79042800-79043600	Enhancers	NHDF-Ad	bronchial
16	chr1:79042800-79043800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:79043000-79043400	Enhancers	HSMM	muscle
18	chr1:79043000-79043400	Active TSS	Osteobl	bone
19	chr1:79043200-79043400	Enhancers	Fetal Lung	lung
20	chr1:79043200-79043600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:79051400-79053600	Enhancers	HMEC	breast
22	chr1:79051600-79053200	Enhancers	HSMMtube	muscle
23	chr1:79051600-79053600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:79051600-79053600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:79051600-79053600	Enhancers	HSMM	muscle
26	chr1:79051800-79052400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:79052000-79052600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:79052000-79053600	Enhancers	NHEK	skin
29	chr1:79052200-79052400	Bivalent Enhancer	Aorta	Aorta
30	chr1:79052200-79052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:79052200-79053200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:79052200-79053200	Enhancers	NHDF-Ad	bronchial
33	chr1:79052200-79053400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:79052200-79053600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:79052800-79057200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:79053200-79057000	Weak transcription	NHDF-Ad	bronchial
37	chr1:79053200-79057200	Weak transcription	HSMMtube	muscle
38	chr1:79053200-79057800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:79053600-79054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:79053600-79062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:79054600-79055200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:79054800-79055000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:79057000-79058200	Enhancers	NHDF-Ad	bronchial
44	chr1:79057200-79057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:79057200-79058200	Enhancers	HSMMtube	muscle
46	chr1:79057800-79058200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:79057800-79058200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:79058200-79058400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:79058200-79059400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:79058200-79059800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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