Variant report

Variant	esv1004413
Chromosome Location	chr5:151454173-151462891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:151454167..151456163-chr5:151462520..151465246,3	K562	blood:
2	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:
3	chr5:151454167..151456163-chr5:151462520..151465246,3	K562	blood:
4	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:
5	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:
6	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533126377	chr5:151455215-151455216	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs141654372	chr5:151455228-151455229	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs570913820	chr5:151455253-151455254	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs537994453	chr5:151455288-151455289	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs368070439	chr5:151455359-151455360	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs159589	chr5:151455391-151455392	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568071474	chr5:151455427-151455428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569030525	chr5:151455439-151455440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535469878	chr5:151455456-151455457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536451607	chr5:151455465-151455466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10515654	chr5:151455515-151455516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116673259	chr5:151455529-151455530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185893205	chr5:151455545-151455546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540017556	chr5:151455553-151455554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558116096	chr5:151455554-151455555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190648805	chr5:151455670-151455671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79532897	chr5:151455762-151455763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561782742	chr5:151455785-151455786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369302577	chr5:151455786-151455787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147075650	chr5:151455807-151455808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs154696	chr5:151455843-151455844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376250202	chr5:151455902-151455903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533115162	chr5:151455910-151455911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4484411	chr5:151455927-151455928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551548212	chr5:151455939-151455940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183171789	chr5:151455974-151455975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373826101	chr5:151455980-151455981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs160037	chr5:151455990-151455991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549827067	chr5:151456015-151456016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568245713	chr5:151456113-151456114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535150025	chr5:151456115-151456116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187628819	chr5:151456134-151456135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138299028	chr5:151456135-151456136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76734642	chr5:151456156-151456157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs160036	chr5:151456198-151456199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116984515	chr5:151456220-151456221	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs576676477	chr5:151456248-151456249	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs154695	chr5:151456270-151456271	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190653600	chr5:151456277-151456278	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs369503072	chr5:151456301-151456302	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs201687335	chr5:151456320-151456321	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs149638273	chr5:151456329-151456330	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs154694	chr5:151456332-151456333	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143411499	chr5:151456343-151456344	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs177439	chr5:151456352-151456353	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542041279	chr5:151456400-151456401	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368520130	chr5:151456429-151456430	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs199837864	chr5:151456431-151456432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200704122	chr5:151456432-151456433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547876120	chr5:151462614-151462615	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Parkinson disease	21829596	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151455200-151455400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:151455400-151456200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:151456000-151456200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:151456200-151456400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
5	chr5:151456400-151456600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:151462600-151464400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:151462800-151463000	Enhancers	Fetal Muscle Leg	muscle

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