Variant report

Variant	esv3519799
Chromosome Location	chr1:84517664-84525662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84524044..84526029-chr1:84541192..84543741,2	K562	blood:
2	chr1:84524529..84526369-chr1:84540016..84543741,3	K562	blood:
3	chr1:84516996..84518865-chr1:84523452..84525021,2	MCF-7	breast:
4	chr1:84516996..84518865-chr1:84523452..84525021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271576	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116248303	chr1:84517668-84517669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576160917	chr1:84517675-84517676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367634433	chr1:84517741-84517742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570620459	chr1:84517743-84517744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74097708	chr1:84517751-84517752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181975477	chr1:84517772-84517773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556022377	chr1:84517777-84517778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563199470	chr1:84524105-84524106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572216783	chr1:84524339-84524340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11163893	chr1:84524387-84524388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541006421	chr1:84524421-84524422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181234285	chr1:84524474-84524475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575043460	chr1:84524482-84524483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543782108	chr1:84524603-84524604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563861339	chr1:84524614-84524615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561618203	chr1:84524627-84524628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199547903	chr1:84524628-84524629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200791939	chr1:84524629-84524630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56393487	chr1:84524665-84524666	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186740094	chr1:84524736-84524737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190693858	chr1:84524801-84524802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148632392	chr1:84524820-84524821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554796661	chr1:84524866-84524867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549536553	chr1:84524931-84524932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569629588	chr1:84525021-84525022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113380021	chr1:84525059-84525060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371265689	chr1:84525061-84525062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113072595	chr1:84525069-84525070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542475845	chr1:84525075-84525076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568433538	chr1:84525137-84525138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181029519	chr1:84525140-84525141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185134840	chr1:84525141-84525142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536275	chr1:84525143-84525144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376186830	chr1:84525193-84525194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577239579	chr1:84525206-84525207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190779230	chr1:84525211-84525212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556757011	chr1:84525245-84525246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576810453	chr1:84525295-84525296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3903923	chr1:84525303-84525304	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183247630	chr1:84525314-84525315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559420637	chr1:84525322-84525323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571990643	chr1:84525330-84525331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187233268	chr1:84525444-84525445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564228166	chr1:84525550-84525551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531995569	chr1:84525612-84525613	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532854248	chr1:84525628-84525629	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192053493	chr1:84525633-84525634	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182989118	chr1:84525639-84525640	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188384336	chr1:84525660-84525661	Enhancers	Chromatin interactive region	1 gene(s)	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
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
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84516200-84517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:84525600-84526800	Enhancers	Brain Substantia Nigra	brain

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