Variant report

Variant	esv3452350
Chromosome Location	chr1:79393609-79399530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 255 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12028201	chr1:79393627-79393628	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59977816	chr1:79393660-79393661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557214151	chr1:79393709-79393710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113864332	chr1:79393724-79393725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558926319	chr1:79393725-79393726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370547752	chr1:79393757-79393758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532824123	chr1:79393772-79393773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551208647	chr1:79393820-79393821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545990598	chr1:79393830-79393831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559689567	chr1:79393832-79393833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531843295	chr1:79393842-79393843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139115376	chr1:79393872-79393873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568815554	chr1:79393928-79393929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536155986	chr1:79393938-79393939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547769977	chr1:79393957-79393958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566097460	chr1:79393975-79393976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12036315	chr1:79393984-79393985	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558000572	chr1:79394018-79394019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192130656	chr1:79394047-79394048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115689572	chr1:79394074-79394075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180812984	chr1:79394085-79394086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12750112	chr1:79394126-79394127	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150031905	chr1:79394187-79394188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77448150	chr1:79394216-79394217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577246132	chr1:79394230-79394231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186096193	chr1:79394261-79394262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563278859	chr1:79394282-79394283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2130199	chr1:79394310-79394311	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550058694	chr1:79394312-79394313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3919969	chr1:79394314-79394315	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372050968	chr1:79394327-79394328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2130198	chr1:79394380-79394381	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548133518	chr1:79394458-79394459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566060726	chr1:79394477-79394478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555713592	chr1:79394487-79394488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539486583	chr1:79394492-79394493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367598137	chr1:79394554-79394555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570098447	chr1:79394557-79394558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11578886	chr1:79394587-79394588	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555104218	chr1:79394596-79394597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs5028698	chr1:79394598-79394599	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561632817	chr1:79394611-79394612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111657353	chr1:79394751-79394752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11578915	chr1:79394806-79394807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577555910	chr1:79394828-79394829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77951548	chr1:79394839-79394840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182575863	chr1:79394859-79394860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187184502	chr1:79394886-79394887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564703300	chr1:79394899-79394900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35160055	chr1:79394909-79394910	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79348600-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:79371600-79404200	Weak transcription	Left Ventricle	heart
3	chr1:79383800-79400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:79384400-79409000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:79384600-79398600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:79384800-79402200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:79390200-79398200	Strong transcription	HUVEC	blood vessel
8	chr1:79398200-79399600	Weak transcription	HUVEC	blood vessel
9	chr1:79398600-79398800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:79398800-79402400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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