Variant report

Variant	esv1827020
Chromosome Location	chr1:80208059-80222895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:80202188..80204653-chr1:80206731..80209181,2	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10493649	chr1:80208059-80208060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538966915	chr1:80208113-80208114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540923230	chr1:80208125-80208126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534747384	chr1:80208215-80208216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554652298	chr1:80208216-80208217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145564219	chr1:80208228-80208229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116109493	chr1:80208248-80208249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552463283	chr1:80208258-80208259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12083569	chr1:80208288-80208289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200131754	chr1:80208310-80208311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553970813	chr1:80208314-80208315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11162808	chr1:80208344-80208345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12744172	chr1:80208356-80208357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560544357	chr1:80208363-80208364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574911889	chr1:80208389-80208390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187184474	chr1:80208395-80208396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191421566	chr1:80208419-80208420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183737125	chr1:80208440-80208441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531611630	chr1:80208445-80208446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550020379	chr1:80208508-80208509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148888259	chr1:80208509-80208510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145465884	chr1:80208721-80208722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535545558	chr1:80208763-80208764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138099261	chr1:80208771-80208772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533639894	chr1:80211643-80211644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147730666	chr1:80211655-80211656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112432166	chr1:80211662-80211663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183449776	chr1:80211724-80211725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375615407	chr1:80211736-80211737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551929336	chr1:80211768-80211769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570223481	chr1:80211829-80211830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537545954	chr1:80211870-80211871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374214994	chr1:80211874-80211875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116560176	chr1:80211895-80211896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187779395	chr1:80211896-80211897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542094291	chr1:80211897-80211898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147451832	chr1:80211928-80211929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577536139	chr1:80211996-80211997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544866139	chr1:80212013-80212014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575710910	chr1:80212049-80212050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373849145	chr1:80212076-80212077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12134064	chr1:80212089-80212090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575046293	chr1:80212091-80212092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542453920	chr1:80212096-80212097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34124755	chr1:80212104-80212105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs398089381	chr1:80212106-80212107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561077903	chr1:80212125-80212126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114943547	chr1:80212129-80212130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12732588	chr1:80212135-80212136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376048609	chr1:80212156-80212157	Enhancers	n/a	n/a	Overlapped CNVs	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80208000-80208800	Enhancers	GM12878-XiMat	blood
2	chr1:80211600-80212200	Enhancers	HUVEC	blood vessel
3	chr1:80211800-80212600	Enhancers	Stomach Mucosa	stomach
4	chr1:80212000-80212200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:80215000-80215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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