Variant report

Variant	esv15952
Chromosome Location	chr1:86296641-86297551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566160311	chr1:86296642-86296643	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7535390	chr1:86296659-86296660	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145125702	chr1:86296673-86296674	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571084254	chr1:86296678-86296679	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536967793	chr1:86296699-86296700	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72952522	chr1:86296719-86296720	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567154315	chr1:86296751-86296752	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530041866	chr1:86296759-86296760	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117743789	chr1:86296760-86296761	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552835363	chr1:86296807-86296808	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543734721	chr1:86296814-86296815	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369060271	chr1:86296825-86296826	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116801897	chr1:86296834-86296835	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535260560	chr1:86296835-86296836	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558405079	chr1:86296880-86296881	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578191704	chr1:86296891-86296892	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114954998	chr1:86296892-86296893	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7527665	chr1:86296907-86296908	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370962891	chr1:86296982-86296983	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532295294	chr1:86296992-86296993	Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573994684	chr1:86297028-86297029	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78026216	chr1:86297045-86297046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559621072	chr1:86297053-86297054	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528586774	chr1:86297083-86297084	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551430148	chr1:86297086-86297087	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564749646	chr1:86297091-86297092	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181048848	chr1:86297103-86297104	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77571205	chr1:86297143-86297144	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531671030	chr1:86297178-86297179	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567542755	chr1:86297197-86297198	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35426824	chr1:86297203-86297204	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185267901	chr1:86297228-86297229	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535904153	chr1:86297243-86297244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370386664	chr1:86297263-86297264	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147570309	chr1:86297264-86297265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35590629	chr1:86297265-86297266	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35109765	chr1:86297277-86297278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552113049	chr1:86297288-86297289	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148797204	chr1:86297291-86297292	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566314873	chr1:86297298-86297299	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141946728	chr1:86297302-86297303	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12091091	chr1:86297314-86297315	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75732523	chr1:86297352-86297353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578217855	chr1:86297364-86297365	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537637191	chr1:86297384-86297385	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529439248	chr1:86297404-86297405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115128119	chr1:86297407-86297408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200633817	chr1:86297409-86297410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113086971	chr1:86297414-86297415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183212955	chr1:86297423-86297424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86296200-86297400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:86296200-86297800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:86296400-86297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:86296400-86297400	Strong transcription	Fetal Lung	lung
5	chr1:86296400-86297600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr1:86296400-86297600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr1:86296400-86297600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:86296600-86297200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr1:86296600-86297400	ZNF genes & repeats	GM12878-XiMat	blood
10	chr1:86297000-86315400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:86297400-86297600	ZNF genes & repeats	Fetal Lung	lung
12	chr1:86297400-86303600	Weak transcription	GM12878-XiMat	blood

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