Variant report

Variant	esv3410419
Chromosome Location	chr5:104818753-104822651
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	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:
2	chr18:42792470..42793145-chr5:104821622..104822504,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132874	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183318712	chr5:104820043-104820044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528457283	chr5:104820054-104820055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545026377	chr5:104820127-104820128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188108597	chr5:104820194-104820195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554068335	chr5:104820206-104820207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533019074	chr5:104820214-104820215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193063259	chr5:104820218-104820219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569747770	chr5:104820241-104820242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572292037	chr5:104820269-104820270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529129116	chr5:104820292-104820293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548788125	chr5:104820301-104820302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530423693	chr5:104820317-104820318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370352205	chr5:104820329-104820330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543678992	chr5:104820464-104820465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565796531	chr5:104820468-104820469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185350699	chr5:104820484-104820485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373074599	chr5:104820559-104820560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536564102	chr5:104821647-104821648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532531254	chr5:104821663-104821664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536396508	chr5:104821703-104821704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111881667	chr5:104821733-104821734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35980132	chr5:104821770-104821771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573107542	chr5:104821784-104821785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116379165	chr5:104821797-104821798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558667616	chr5:104821806-104821807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192585558	chr5:104821831-104821832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544621876	chr5:104821873-104821874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184828311	chr5:104821883-104821884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567107544	chr5:104821900-104821901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113780598	chr5:104821923-104821924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561148815	chr5:104821968-104821969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs56108203	chr5:104822021-104822022	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116153362	chr5:104822032-104822033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144474195	chr5:104822041-104822042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528341614	chr5:104822095-104822096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148423722	chr5:104822115-104822116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376057643	chr5:104822116-104822117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551489563	chr5:104822127-104822128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148013489	chr5:104822258-104822259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143554065	chr5:104822259-104822260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147136312	chr5:104822263-104822264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189712050	chr5:104822316-104822317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181879363	chr5:104822338-104822339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186952922	chr5:104822362-104822363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs58905981	chr5:104822371-104822372	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189180847	chr5:104822387-104822388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7725959	chr5:104822406-104822407	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Obesity	20622171	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104820000-104820600	Enhancers	HUES48 Cell Line	embryonic stem cell

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