Variant report

Variant	esv3355898
Chromosome Location	chr5:43320995-43325293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43312195..43313861-chr5:43318989..43321314,3	K562	blood:
2	chr5:43317902..43322981-chr5:43481310..43485005,5	K562	blood:
3	chr5:43312302..43315241-chr5:43320244..43322434,2	MCF-7	breast:
4	chr5:43310462..43313861-chr5:43318500..43321089,4	K562	blood:

Variant related genes	Relation type
ENSG00000112972	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000249492	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187435589	chr5:43321017-43321018	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs370760260	chr5:43321018-43321019	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531505761	chr5:43321023-43321024	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs117046003	chr5:43321076-43321077	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs193045880	chr5:43321089-43321090	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs13174298	chr5:43321111-43321112	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527759252	chr5:43321124-43321125	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs113870609	chr5:43321129-43321130	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs111749963	chr5:43321146-43321147	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547552524	chr5:43321153-43321154	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs570960803	chr5:43321158-43321159	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs371596798	chr5:43321194-43321195	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs540032201	chr5:43321209-43321210	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs185800637	chr5:43321228-43321229	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs113985210	chr5:43321335-43321336	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs60445501	chr5:43321336-43321337	Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs181074396	chr5:43321371-43321372	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs111274893	chr5:43321375-43321376	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs574328667	chr5:43321400-43321401	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs533817659	chr5:43321406-43321407	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553576090	chr5:43321434-43321435	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs115949335	chr5:43321447-43321448	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184353858	chr5:43321478-43321479	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs55634155	chr5:43321519-43321520	Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs71627599	chr5:43321523-43321524	Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575898449	chr5:43321537-43321538	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs541781244	chr5:43321553-43321554	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs188513047	chr5:43321571-43321572	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs71627600	chr5:43321577-43321578	Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547813392	chr5:43321599-43321600	Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs564423028	chr5:43321620-43321621	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557815835	chr5:43321651-43321652	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs372297198	chr5:43321686-43321687	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs7715190	chr5:43321701-43321702	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs56363535	chr5:43321737-43321738	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
36	rs536082397	chr5:43321741-43321742	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs549394613	chr5:43321748-43321749	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs566402291	chr5:43321769-43321770	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371963689	chr5:43321779-43321780	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs144697669	chr5:43321829-43321830	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs185976134	chr5:43321838-43321839	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs376288215	chr5:43321852-43321853	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs138842751	chr5:43321859-43321860	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs570171892	chr5:43321860-43321861	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs539162813	chr5:43321884-43321885	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs190735093	chr5:43321885-43321886	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs7733732	chr5:43321952-43321953	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542043741	chr5:43321959-43321960	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs555366188	chr5:43322004-43322005	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs572355493	chr5:43322012-43322013	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43320600-43321600	Flanking Active TSS	K562	blood
2	chr5:43320800-43321200	Enhancers	HepG2	liver
3	chr5:43321600-43322600	Enhancers	K562	blood
4	chr5:43321800-43322800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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