Variant report

Variant	esv1821795
Chromosome Location	chr5:57320343-57336494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
2	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
3	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
4	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
5	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
6	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
7	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
8	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs984926	chr5:57320343-57320344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146572872	chr5:57320347-57320348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57389353	chr5:57320389-57320390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560398667	chr5:57320394-57320395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183322120	chr5:57320423-57320424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148887555	chr5:57320444-57320445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567415291	chr5:57320463-57320464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538128645	chr5:57320468-57320469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531807719	chr5:57320484-57320485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549395476	chr5:57320512-57320513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187455991	chr5:57320529-57320530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555888369	chr5:57320541-57320542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538389944	chr5:57320616-57320617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191439314	chr5:57320640-57320641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142615750	chr5:57320726-57320727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367835749	chr5:57320727-57320728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555911072	chr5:57320742-57320743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183961554	chr5:57320760-57320761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371597885	chr5:57320761-57320762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150971846	chr5:57320825-57320826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140889312	chr5:57320849-57320850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59599733	chr5:57320873-57320874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545521611	chr5:57320874-57320875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199822059	chr5:57320876-57320877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200465183	chr5:57320877-57320878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560543481	chr5:57320879-57320880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527497185	chr5:57320890-57320891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58188238	chr5:57320937-57320938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59511923	chr5:57320938-57320939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531555546	chr5:57320939-57320940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1844437	chr5:57320954-57320955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
32	rs570922868	chr5:57320971-57320972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535243589	chr5:57320995-57320996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187848191	chr5:57321044-57321045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547102336	chr5:57321072-57321073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73759810	chr5:57321073-57321074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs5868087	chr5:57321091-57321092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35510620	chr5:57321092-57321093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398064836	chr5:57321103-57321104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377138195	chr5:57321105-57321106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530259128	chr5:57321116-57321117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116276338	chr5:57321145-57321146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192614701	chr5:57321196-57321197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543106134	chr5:57321410-57321411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1352609	chr5:57321413-57321414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs185074579	chr5:57321445-57321446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543317890	chr5:57321479-57321480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372607030	chr5:57321483-57321484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141104399	chr5:57321525-57321526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556644389	chr5:57321535-57321536	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57318400-57321200	Weak transcription	Right Ventricle	heart
2	chr5:57321400-57321600	Enhancers	Right Ventricle	heart
3	chr5:57332400-57332600	Enhancers	Stomach Mucosa	stomach
4	chr5:57332600-57338200	Weak transcription	Stomach Mucosa	stomach
5	chr5:57334600-57335000	Enhancers	Fetal Brain Male	brain
6	chr5:57334600-57335000	Enhancers	Right Atrium	heart
7	chr5:57335200-57336000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr5:57335200-57339000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:57335800-57336200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:57335800-57336200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:57335800-57336200	Enhancers	Liver	Liver
12	chr5:57335800-57336800	Enhancers	HMEC	breast
13	chr5:57335800-57337000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:57335800-57337000	Enhancers	NHDF-Ad	bronchial
15	chr5:57335800-57337200	Enhancers	HSMM	muscle
16	chr5:57335800-57337400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:57336000-57336600	Enhancers	Osteobl	bone
18	chr5:57336000-57336800	Enhancers	NHEK	skin
19	chr5:57336000-57337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:57336000-57337000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:57336000-57337000	Enhancers	Hela-S3	cervix
22	chr5:57336000-57337000	Enhancers	NH-A	brain
23	chr5:57336000-57337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:57336000-57337200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:57336000-57337200	Weak transcription	K562	blood
26	chr5:57336200-57338800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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