Variant report

Variant	esv3452325
Chromosome Location	chr1:71243992-71249701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGER3-8	chr1:71246141-71247581	NONHSAT003868

Extended variants
information (count: 121 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532246411	chr1:71244014-71244015	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12096502	chr1:71244043-71244044	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565529607	chr1:71244064-71244065	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534660125	chr1:71244116-71244117	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191033675	chr1:71244247-71244248	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183169614	chr1:71244264-71244265	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187643911	chr1:71244281-71244282	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568793471	chr1:71244323-71244324	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192749128	chr1:71244354-71244355	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556759945	chr1:71244366-71244367	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551512582	chr1:71244380-71244381	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182391902	chr1:71244391-71244392	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531210425	chr1:71244439-71244440	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545109511	chr1:71244440-71244441	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12755135	chr1:71244484-71244485	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188276265	chr1:71244497-71244498	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572348065	chr1:71244578-71244579	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140382118	chr1:71244656-71244657	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547852670	chr1:71244690-71244691	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561409771	chr1:71244744-71244745	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530437154	chr1:71244758-71244759	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543983616	chr1:71244829-71244830	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11209690	chr1:71244891-71244892	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532792635	chr1:71244945-71244946	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192697684	chr1:71244989-71244990	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149993015	chr1:71245041-71245042	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548999280	chr1:71245071-71245072	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567532120	chr1:71245082-71245083	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116782728	chr1:71245087-71245088	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528059696	chr1:71245126-71245127	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548183756	chr1:71245129-71245130	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2258875	chr1:71245142-71245143	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs549999708	chr1:71245158-71245159	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146552313	chr1:71245187-71245188	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571677158	chr1:71245247-71245248	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550321443	chr1:71245248-71245249	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570305697	chr1:71245308-71245309	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539297078	chr1:71245318-71245319	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558764028	chr1:71245401-71245402	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76789231	chr1:71245417-71245418	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534678712	chr1:71245419-71245420	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2258880	chr1:71245423-71245424	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12049500	chr1:71245429-71245430	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1409983	chr1:71245436-71245437	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75821090	chr1:71245458-71245459	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577491555	chr1:71245469-71245470	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546412181	chr1:71245482-71245483	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556186518	chr1:71245505-71245506	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577408388	chr1:71245536-71245537	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559149399	chr1:71245563-71245564	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
small cell lung cancer	20016488	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71243000-71244000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:71243000-71247000	Enhancers	NHDF-Ad	bronchial
3	chr1:71243600-71245400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:71243800-71244000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71244000-71244200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71244000-71244200	Enhancers	NHLF	lung
7	chr1:71244000-71244800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:71244000-71245200	Enhancers	Osteobl	bone
9	chr1:71244200-71244800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:71244200-71245400	Weak transcription	NHLF	lung
11	chr1:71244800-71245400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:71244800-71245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:71244800-71245600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:71244800-71245800	Enhancers	HSMM	muscle
15	chr1:71245200-71246200	Weak transcription	Osteobl	bone
16	chr1:71245400-71246200	Enhancers	NHLF	lung
17	chr1:71245600-71245800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:71245600-71245800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:71245800-71246200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:71245800-71247000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:71246400-71246600	Enhancers	Osteobl	bone

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