Variant report

Variant	esv3414073
Chromosome Location	chr5:93905935-93906142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565700638	chr5:93905966-93905967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs80121601	chr5:93905971-93905972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs77457134	chr5:93905972-93905973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188878878	chr5:93905976-93905977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539342174	chr5:93905977-93905978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79216994	chr5:93905994-93905995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554492396	chr5:93905998-93905999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574669967	chr5:93906001-93906002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75846120	chr5:93906009-93906010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76062780	chr5:93906012-93906013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs114417414	chr5:93906024-93906025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs74597830	chr5:93906039-93906040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79468967	chr5:93906051-93906052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116885296	chr5:93906068-93906069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372428036	chr5:93906072-93906073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576441337	chr5:93906073-93906074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146138822	chr5:93906078-93906079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76028173	chr5:93906079-93906080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75957351	chr5:93906082-93906083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575929879	chr5:93906088-93906089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs572880592	chr5:93906089-93906090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78657298	chr5:93906094-93906095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs74984246	chr5:93906096-93906097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113362830	chr5:93906102-93906103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62365668	chr5:93906115-93906116	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:80)

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	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
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
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
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
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93904200-93908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:93905400-93906000	ZNF genes & repeats	Aorta	Aorta
4	chr5:93905800-93906600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr5:93906000-93913200	Weak transcription	Aorta	Aorta

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