Variant report

Variant	esv3395106
Chromosome Location	chr5:151719459-151726107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372747072	chr5:151725407-151725408	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs538452502	chr5:151725431-151725432	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370681115	chr5:151725432-151725433	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376265153	chr5:151725475-151725476	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs375588261	chr5:151725502-151725503	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111516797	chr5:151725541-151725542	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs367642997	chr5:151725553-151725554	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574062932	chr5:151725565-151725566	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141311229	chr5:151725568-151725569	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182819069	chr5:151725569-151725570	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386693683	chr5:151725576-151725577	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376878317	chr5:151725592-151725593	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370417161	chr5:151725596-151725597	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528592438	chr5:151725608-151725609	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578124261	chr5:151725614-151725615	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35026034	chr5:151725634-151725635	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545227474	chr5:151725644-151725645	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563057304	chr5:151725650-151725651	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150382338	chr5:151725657-151725658	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542291735	chr5:151725658-151725659	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187492895	chr5:151725659-151725660	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528064717	chr5:151725678-151725679	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193036774	chr5:151725704-151725705	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138677489	chr5:151725707-151725708	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371287926	chr5:151725738-151725739	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7711391	chr5:151725743-151725744	Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570186526	chr5:151725774-151725775	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571511803	chr5:151725793-151725794	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537572420	chr5:151725819-151725820	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143012569	chr5:151725851-151725852	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567696233	chr5:151725937-151725938	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534661646	chr5:151725945-151725946	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148467289	chr5:151725946-151725947	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374765036	chr5:151725953-151725954	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185692051	chr5:151725954-151725955	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147480661	chr5:151725955-151725956	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557158799	chr5:151725963-151725964	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575416722	chr5:151725973-151725974	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539030128	chr5:151725998-151725999	Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542354747	chr5:151726009-151726010	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs557375557	chr5:151726050-151726051	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs7733804	chr5:151726078-151726079	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151725400-151725600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:151725400-151725600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:151725400-151725800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:151725600-151725800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:151725600-151725800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:151725600-151725800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:151725800-151726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:151725800-151726000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:151725800-151726200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell

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