Variant report

Variant	esv14828
Chromosome Location	chr5:107794869-107795891
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	chr5:107794475..107796530-chr5:107798622..107801078,2	K562	blood:
2	chr5:107793802..107796120-chr5:107799415..107800948,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371766288	chr5:107795217-107795218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79770230	chr5:107795228-107795229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs888749	chr5:107795230-107795231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191997503	chr5:107795298-107795299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10043553	chr5:107795317-107795318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34273239	chr5:107795319-107795320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561619407	chr5:107795331-107795332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114325578	chr5:107795344-107795345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547352836	chr5:107795357-107795358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183338987	chr5:107795397-107795398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539516276	chr5:107795411-107795412	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1078831	chr5:107795432-107795433	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552718704	chr5:107795434-107795435	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557067716	chr5:107795445-107795446	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs6882933	chr5:107795454-107795455	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140219478	chr5:107795503-107795504	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1106925	chr5:107795511-107795512	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567698449	chr5:107795512-107795513	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10043600	chr5:107795557-107795558	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534222186	chr5:107795571-107795572	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554117251	chr5:107795574-107795575	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186972118	chr5:107795626-107795627	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546285558	chr5:107795686-107795687	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs137916518	chr5:107795714-107795715	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs76719632	chr5:107795721-107795722	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs189782652	chr5:107795742-107795743	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541588386	chr5:107795747-107795748	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs561680022	chr5:107795752-107795753	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs888750	chr5:107795755-107795756	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs540716207	chr5:107795775-107795776	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182143977	chr5:107795782-107795783	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs55857894	chr5:107795787-107795788	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188064436	chr5:107795799-107795800	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569741880	chr5:107795804-107795805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1421973	chr5:107795811-107795812	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371627310	chr5:107795836-107795837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112070335	chr5:107795857-107795858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548786950	chr5:107795889-107795890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107795200-107795800	Enhancers	Fetal Lung	lung
2	chr5:107795200-107796000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:107795200-107796000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:107795400-107795600	Enhancers	HSMMtube	muscle
5	chr5:107795400-107795800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:107795400-107795800	Active TSS	Brain Angular Gyrus	brain
7	chr5:107795400-107796200	Enhancers	Brain Germinal Matrix	brain
8	chr5:107795600-107795800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:107795600-107795800	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr5:107795800-107796800	Weak transcription	HSMMtube	muscle
11	chr5:107795800-107797000	Weak transcription	Fetal Lung	lung

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