Variant report

Variant	esv3419037
Chromosome Location	chr5:57658399-57658917
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	chr5:57654875..57656894-chr5:57657997..57659625,2	MCF-7	breast:
2	chr5:57657859..57660556-chr5:57662293..57664197,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578232421	chr5:57658409-57658410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs26977	chr5:57658416-57658417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189038440	chr5:57658425-57658426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72758116	chr5:57658442-57658443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549362228	chr5:57658486-57658487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370191528	chr5:57658503-57658504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560984468	chr5:57658533-57658534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142437205	chr5:57658540-57658541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs26978	chr5:57658609-57658610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs180992099	chr5:57658650-57658651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538461426	chr5:57658669-57658670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547147832	chr5:57658673-57658674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565769972	chr5:57658678-57658679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375781997	chr5:57658705-57658706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62366346	chr5:57658759-57658760	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147958554	chr5:57658789-57658790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557046885	chr5:57658856-57658857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372050464	chr5:57658884-57658885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538515337	chr5:57658913-57658914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57657000-57661600	Weak transcription	Fetal Heart	heart
2	chr5:57658400-57658600	Weak transcription	Adipose Nuclei	Adipose
3	chr5:57658600-57658800	Enhancers	Adipose Nuclei	Adipose
4	chr5:57658800-57662400	Weak transcription	Adipose Nuclei	Adipose

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