Variant report

Variant	esv3348246
Chromosome Location	chr5:154410859-154413982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2431156	chr5:154410863-154410864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150820411	chr5:154410890-154410891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150409158	chr5:154410922-154410923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370393810	chr5:154410947-154410948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571067305	chr5:154410972-154410973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538109517	chr5:154410974-154410975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550164231	chr5:154411074-154411075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148001742	chr5:154411110-154411111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200101017	chr5:154411111-154411112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371034885	chr5:154411114-154411115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376979663	chr5:154411124-154411125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2431155	chr5:154411127-154411128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs201427001	chr5:154411140-154411141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568100125	chr5:154411190-154411191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142528048	chr5:154411199-154411200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2431154	chr5:154411220-154411221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112926330	chr5:154411268-154411269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572209856	chr5:154411348-154411349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572983909	chr5:154411420-154411421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538826918	chr5:154411424-154411425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62383082	chr5:154411524-154411525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139478416	chr5:154411558-154411559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190087249	chr5:154411562-154411563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111497826	chr5:154411573-154411574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142874678	chr5:154411586-154411587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528822594	chr5:154411595-154411596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539067402	chr5:154411596-154411597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536733927	chr5:154411600-154411601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200748075	chr5:154411604-154411605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146077361	chr5:154411605-154411606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181613416	chr5:154411611-154411612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185984390	chr5:154411613-154411614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369406277	chr5:154411637-154411638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375999460	chr5:154411638-154411639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375113861	chr5:154411669-154411670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540406298	chr5:154411670-154411671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369589700	chr5:154411676-154411677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192017237	chr5:154411700-154411701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562834316	chr5:154411725-154411726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373311847	chr5:154411733-154411734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184184321	chr5:154411750-154411751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372996730	chr5:154411766-154411767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376446214	chr5:154411767-154411768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371229535	chr5:154411784-154411785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545091035	chr5:154411800-154411801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377160333	chr5:154411819-154411820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36137220	chr5:154411832-154411833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188687303	chr5:154411840-154411841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369693951	chr5:154411853-154411854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374082274	chr5:154411854-154411855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154404000-154413400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:154413600-154414200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:154413600-154414400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:154413800-154415000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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