Variant report

Variant	esv3471559
Chromosome Location	chr5:89876083-89876817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538779105	chr5:89876105-89876106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558614434	chr5:89876243-89876244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572154813	chr5:89876266-89876267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187897696	chr5:89876273-89876274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554907807	chr5:89876275-89876276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6889466	chr5:89876304-89876305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140970445	chr5:89876306-89876307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563759565	chr5:89876307-89876308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150247114	chr5:89876344-89876345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545165394	chr5:89876350-89876351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200391944	chr5:89876357-89876358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192353880	chr5:89876394-89876395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184989395	chr5:89876433-89876434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547088507	chr5:89876436-89876437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560906353	chr5:89876465-89876466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188928591	chr5:89876477-89876478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550031679	chr5:89876504-89876505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569553356	chr5:89876512-89876513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538443211	chr5:89876523-89876524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551906322	chr5:89876538-89876539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181539869	chr5:89876554-89876555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371555783	chr5:89876556-89876557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534758858	chr5:89876566-89876567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554689722	chr5:89876662-89876663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574755358	chr5:89876714-89876715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6890465	chr5:89876755-89876756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112687005	chr5:89876763-89876764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563476480	chr5:89876764-89876765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370908608	chr5:89876817-89876818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89859400-89884200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:89867400-89889200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:89868800-89884400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:89869200-89881200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:89871600-89877400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:89872000-89881600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:89875800-89876400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:89876400-89881000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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