Variant report

Variant	esv3334997
Chromosome Location	chr5:151456109-151463407
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	chr5:151454167..151456163-chr5:151462520..151465246,3	K562	blood:
3	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:
4	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:
5	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:
6	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568245713	chr5:151456113-151456114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535150025	chr5:151456115-151456116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187628819	chr5:151456134-151456135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138299028	chr5:151456135-151456136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76734642	chr5:151456156-151456157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs160036	chr5:151456198-151456199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116984515	chr5:151456220-151456221	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs576676477	chr5:151456248-151456249	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs154695	chr5:151456270-151456271	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190653600	chr5:151456277-151456278	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs369503072	chr5:151456301-151456302	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs201687335	chr5:151456320-151456321	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs149638273	chr5:151456329-151456330	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs154694	chr5:151456332-151456333	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs143411499	chr5:151456343-151456344	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs177439	chr5:151456352-151456353	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542041279	chr5:151456400-151456401	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368520130	chr5:151456429-151456430	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199837864	chr5:151456431-151456432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200704122	chr5:151456432-151456433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547876120	chr5:151462614-151462615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565894700	chr5:151462624-151462625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533378918	chr5:151462625-151462626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182945974	chr5:151462682-151462683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74989168	chr5:151462732-151462733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79240275	chr5:151462750-151462751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543299564	chr5:151462839-151462840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141428559	chr5:151462879-151462880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540352887	chr5:151462898-151462899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187800302	chr5:151462902-151462903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534371021	chr5:151462906-151462907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553039038	chr5:151462950-151462951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146185518	chr5:151462958-151462959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191820791	chr5:151462966-151462967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556823481	chr5:151463034-151463035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs693104	chr5:151463117-151463118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs542412333	chr5:151463129-151463130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560705877	chr5:151463143-151463144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572486510	chr5:151463163-151463164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139148811	chr5:151463179-151463180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77064734	chr5:151463240-151463241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182818538	chr5:151463272-151463273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187509208	chr5:151463285-151463286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533152940	chr5:151463298-151463299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58154828	chr5:151463392-151463393	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr5:151455400-151456200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:151456000-151456200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:151456200-151456400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
4	chr5:151456400-151456600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:151462600-151464400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:151462800-151463000	Enhancers	Fetal Muscle Leg	muscle
7	chr5:151463000-151463800	Weak transcription	Fetal Muscle Leg	muscle

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