Variant report

Variant	esv3375099
Chromosome Location	chr1:79010980-79033337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 305 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140749663	chr1:79010981-79010982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565730753	chr1:79011009-79011010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541780400	chr1:79011065-79011066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11162506	chr1:79011078-79011079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573702653	chr1:79011079-79011080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35337590	chr1:79011083-79011084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs663485	chr1:79011202-79011203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190448006	chr1:79011262-79011263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538528918	chr1:79011307-79011308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556573730	chr1:79011345-79011346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575245733	chr1:79011429-79011430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542151306	chr1:79011445-79011446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72933670	chr1:79011492-79011493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572556846	chr1:79011495-79011496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144711939	chr1:79011510-79011511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563856455	chr1:79011523-79011524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568429448	chr1:79011540-79011541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147916014	chr1:79011581-79011582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549395542	chr1:79011584-79011585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537095239	chr1:79011585-79011586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12069914	chr1:79011759-79011760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373471872	chr1:79011761-79011762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529232806	chr1:79011798-79011799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549554438	chr1:79011886-79011887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139544693	chr1:79011905-79011906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149721713	chr1:79011918-79011919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12070947	chr1:79011944-79011945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35735651	chr1:79011947-79011948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs180762651	chr1:79011989-79011990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34576041	chr1:79011994-79011995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116661532	chr1:79012028-79012029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570985558	chr1:79012109-79012110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112678928	chr1:79012125-79012126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185224193	chr1:79012141-79012142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189990258	chr1:79012167-79012168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556636506	chr1:79012179-79012180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181248958	chr1:79012183-79012184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535795618	chr1:79012191-79012192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554179305	chr1:79012199-79012200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572668262	chr1:79012248-79012249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145599046	chr1:79012254-79012255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573131558	chr1:79012351-79012352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534701430	chr1:79012408-79012409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575771519	chr1:79012472-79012473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554408422	chr1:79012516-79012517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77759391	chr1:79012573-79012574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368598697	chr1:79012629-79012630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561396486	chr1:79012650-79012651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528888843	chr1:79012707-79012708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574373098	chr1:79012755-79012756	Enhancers	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79004200-79012400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:79012400-79012800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:79014400-79015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:79015600-79016000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:79017800-79018200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:79018800-79019600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:79019200-79019800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:79026000-79028600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:79026200-79026400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:79027200-79027800	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:79028000-79028400	Enhancers	Monocytes-CD14+_RO01746	blood

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