Variant report

Variant	esv1808837
Chromosome Location	chr5:151238149-151260215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:151250421-151250735	K562	blood:	n/a	n/a
2	CEBPB	chr5:151253872-151253916	HepG2	liver:	n/a	chr5:151253899-151253910
3	CEBPB	chr5:151252280-151252633	K562	blood:	n/a	chr5:151252451-151252464 chr5:151252453-151252462 chr5:151252453-151252462 chr5:151252451-151252464 chr5:151252451-151252462 chr5:151252453-151252464 chr5:151252453-151252462 chr5:151252453-151252462
4	CEBPB	chr5:151252289-151252612	A549	lung:	n/a	chr5:151252451-151252464 chr5:151252453-151252462 chr5:151252453-151252462 chr5:151252451-151252464 chr5:151252451-151252462 chr5:151252453-151252464 chr5:151252453-151252462 chr5:151252453-151252462
5	CEBPB	chr5:151253328-151253627	Hela-S3	cervix:	n/a	chr5:151253438-151253449
6	CEBPB	chr5:151253245-151253701	A549	lung:	n/a	chr5:151253438-151253449
7	CEBPB	chr5:151253258-151253630	K562	blood:	n/a	chr5:151253438-151253449
8	CEBPB	chr5:151252275-151252639	HepG2	liver:	n/a	chr5:151252451-151252464 chr5:151252453-151252462 chr5:151252453-151252462 chr5:151252451-151252464 chr5:151252451-151252462 chr5:151252453-151252464 chr5:151252453-151252462 chr5:151252453-151252462
9	CEBPB	chr5:151252305-151252523	MCF-7	breast:	n/a	chr5:151252451-151252464 chr5:151252453-151252462 chr5:151252453-151252462 chr5:151252451-151252464 chr5:151252451-151252462 chr5:151252453-151252464 chr5:151252453-151252462 chr5:151252453-151252462
10	CEBPB	chr5:151253265-151253638	A549	lung:	n/a	chr5:151253438-151253449
11	CEBPB	chr5:151250146-151250675	Hela-S3	cervix:	n/a	chr5:151250213-151250224 chr5:151250212-151250229 chr5:151250213-151250224
12	CEBPB	chr5:151252309-151252568	Hela-S3	cervix:	n/a	chr5:151252451-151252464 chr5:151252453-151252462 chr5:151252453-151252462 chr5:151252451-151252464 chr5:151252451-151252462 chr5:151252453-151252464 chr5:151252453-151252462 chr5:151252453-151252462
13	CEBPB	chr5:151252395-151252563	H1-hESC	embryonic stem cell:	n/a	chr5:151252451-151252464 chr5:151252453-151252462 chr5:151252453-151252462 chr5:151252451-151252464 chr5:151252451-151252462 chr5:151252453-151252464 chr5:151252453-151252462 chr5:151252453-151252462
14	CEBPB	chr5:151253258-151253640	IMR90	lung:	n/a	chr5:151253438-151253449
15	CEBPB	chr5:151253283-151253836	H1-hESC	embryonic stem cell:	n/a	chr5:151253438-151253449
16	CEBPB	chr5:151253302-151253678	MCF-7	breast:	n/a	chr5:151253438-151253449
17	CEBPB	chr5:151253247-151253626	ECC-1	luminal epithelium:	n/a	chr5:151253438-151253449
18	CEBPB	chr5:151252272-151252620	IMR90	lung:	n/a	chr5:151252451-151252464 chr5:151252453-151252462 chr5:151252453-151252462 chr5:151252451-151252464 chr5:151252451-151252462 chr5:151252453-151252464 chr5:151252453-151252462 chr5:151252453-151252462
19	CEBPB	chr5:151253264-151253632	HepG2	liver:	n/a	chr5:151253438-151253449
20	CEBPB	chr5:151249811-151249817	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr5:151253252-151253630	MCF-7	breast:	n/a	chr5:151253438-151253449
22	CEBPB	chr5:151259992-151260293	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr5:151253259-151253626	A549	lung:	n/a	chr5:151253438-151253449
24	CREB1	chr5:151248039-151248436	GM12878	blood:	n/a	n/a
25	CTCF	chr5:151250540-151250690	HRE	kidney:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
26	CTCF	chr5:151250480-151250630	HMEC	breast:	n/a	n/a
27	CTCF	chr5:151250540-151250690	AG04449	skin:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
28	CTCF	chr5:151258505-151258547	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr5:151253940-151254090	HRE	kidney:	n/a	n/a
30	CTCF	chr5:151250560-151250710	HEK293	kidney:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
31	CTCF	chr5:151250620-151250770	RPTEC	kidney:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
32	CTCF	chr5:151243960-151244110	GM12867	blood:	n/a	n/a
33	CTCF	chr5:151250564-151250695	NHEK	skin:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
34	CTCF	chr5:151250580-151250730	HMEC	breast:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
35	CTCF	chr5:151250617-151250686	ProgFib	skin:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
36	CTCF	chr5:151250540-151250690	HBMEC	blood vessel:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
37	CTCF	chr5:151250500-151250650	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr5:151258495-151258501	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr5:151253500-151253650	HEK293	kidney:	n/a	n/a
40	CTCF	chr5:151240431-151240457	GM13976	blood:	n/a	n/a
41	CTCF	chr5:151253163-151253197	MCF-7	breast:	n/a	n/a
42	CTCF	chr5:151250537-151250709	Gliobla	brain:	n/a	chr5:151250637-151250658 chr5:151250635-151250653
43	E2F4	chr5:151255050-151255105	MCF10A-Er-Src	breast:	n/a	n/a
44	ELK1	chr5:151248124-151248377	GM12878	blood:	n/a	n/a
45	EP300	chr5:151242400-151242607	GM12878	blood:	n/a	chr5:151242555-151242569
46	EP300	chr5:151259751-151260417	ECC-1	luminal epithelium:	n/a	n/a
47	EP300	chr5:151248134-151248281	GM12878	blood:	n/a	chr5:151248255-151248264
48	FOS	chr5:151250304-151250790	MCF10A-Er-Src	breast:	n/a	chr5:151250535-151250546 chr5:151250536-151250544 chr5:151250534-151250546
49	FOS	chr5:151250230-151250803	MCF10A-Er-Src	breast:	n/a	chr5:151250535-151250546 chr5:151250536-151250544 chr5:151250534-151250546
50	FOS	chr5:151250362-151250743	MCF10A-Er-Src	breast:	n/a	chr5:151250535-151250546 chr5:151250536-151250544 chr5:151250534-151250546

No.	Distal block	Cell Line	Cell type
1	chr5:151237615..151239787-chr5:151247109..151248948,2	K562	blood:
2	chr5:151146976..151149918-chr5:151242837..151245370,2	K562	blood:
3	chr5:151150311..151152701-chr5:151245242..151247045,2	K562	blood:
4	chr5:151238710..151240284-chr5:151243500..151245293,2	K562	blood:
5	chr5:151237615..151239787-chr5:151247109..151248948,2	K562	blood:
6	chr5:151238710..151240284-chr5:151243500..151245293,2	K562	blood:

Variant related genes	Relation type
RNA5SP198	TF binding region
ENSG00000145907	chromatin interactions
ENSG00000177556	chromatin interactions

Extended variants
information (count: 777 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552446729	chr5:151238159-151238160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9324712	chr5:151238173-151238174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369888718	chr5:151238186-151238187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9324713	chr5:151238194-151238195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79956845	chr5:151238222-151238223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564395108	chr5:151238249-151238250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550045204	chr5:151238292-151238293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs33988190	chr5:151238335-151238336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397883865	chr5:151238344-151238345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531665998	chr5:151238346-151238347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188853150	chr5:151238361-151238362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181553696	chr5:151238374-151238375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34096447	chr5:151238449-151238450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111558291	chr5:151238456-151238457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548396347	chr5:151238478-151238479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566485759	chr5:151238513-151238514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187100857	chr5:151238516-151238517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547440070	chr5:151238547-151238548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566086916	chr5:151238600-151238601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115361217	chr5:151238604-151238605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76065488	chr5:151238629-151238630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538198898	chr5:151238632-151238633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561960005	chr5:151238651-151238652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386693663	chr5:151238669-151238670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10463320	chr5:151238670-151238671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143562291	chr5:151238713-151238714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34382125	chr5:151238757-151238758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572044845	chr5:151238836-151238837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545795298	chr5:151238846-151238847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372776019	chr5:151238890-151238891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111883815	chr5:151238898-151238899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564103314	chr5:151238902-151238903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576275550	chr5:151238903-151238904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543398935	chr5:151238941-151238942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561874499	chr5:151238942-151238943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17112288	chr5:151238954-151238955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182476621	chr5:151238965-151238966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558438078	chr5:151239064-151239065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148041239	chr5:151239079-151239080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140874399	chr5:151239095-151239096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552145401	chr5:151239117-151239118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570559710	chr5:151239136-151239137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377216445	chr5:151239140-151239141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538488002	chr5:151239149-151239150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6889290	chr5:151239185-151239186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548321164	chr5:151239187-151239188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11167558	chr5:151239218-151239219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576371942	chr5:151239235-151239236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150177538	chr5:151239266-151239267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368124233	chr5:151239267-151239268	Weak transcription	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151231200-151242800	Weak transcription	Aorta	Aorta
2	chr5:151235200-151264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:151237600-151238200	Enhancers	Left Ventricle	heart
4	chr5:151237600-151238200	Enhancers	Spleen	Spleen
5	chr5:151242200-151242600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:151242200-151243000	Enhancers	GM12878-XiMat	blood
7	chr5:151242800-151243000	Enhancers	Aorta	Aorta
8	chr5:151243000-151243400	Weak transcription	Aorta	Aorta
9	chr5:151243400-151245000	Enhancers	Aorta	Aorta
10	chr5:151243800-151244400	Enhancers	Fetal Lung	lung
11	chr5:151247200-151247600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:151247800-151248600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:151248000-151248800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:151248200-151248600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:151248200-151248600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:151248200-151248800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:151249800-151250800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:151249800-151250800	Enhancers	HSMM	muscle
19	chr5:151249800-151251000	Enhancers	HSMMtube	muscle
20	chr5:151249800-151251200	Enhancers	NHDF-Ad	bronchial
21	chr5:151250000-151250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:151250000-151250800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:151250000-151250800	Enhancers	NH-A	brain
24	chr5:151250000-151250800	Enhancers	Osteobl	bone
25	chr5:151250000-151251000	Enhancers	HMEC	breast
26	chr5:151250000-151251800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:151250000-151252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:151250200-151250600	Enhancers	NHLF	lung
29	chr5:151250200-151250800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:151250200-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:151250200-151250800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:151250200-151250800	Enhancers	NHEK	skin
33	chr5:151250400-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:151250400-151250800	Enhancers	A549	lung
35	chr5:151250800-151251600	Weak transcription	HSMM	muscle
36	chr5:151251600-151251800	Enhancers	HSMM	muscle
37	chr5:151256200-151256600	Enhancers	Fetal Heart	heart
38	chr5:151256600-151259400	Weak transcription	Fetal Heart	heart
39	chr5:151259200-151260000	Enhancers	Left Ventricle	heart
40	chr5:151259400-151260400	Enhancers	Fetal Heart	heart
41	chr5:151259400-151260800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:151259600-151260400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:151259800-151260000	Enhancers	Psoas Muscle	Psoas
44	chr5:151259800-151260200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:151259800-151260200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:151259800-151260200	Enhancers	Aorta	Aorta
47	chr5:151259800-151260200	Enhancers	Fetal Stomach	stomach
48	chr5:151259800-151260200	Enhancers	HSMM	muscle
49	chr5:151259800-151261000	Enhancers	Fetal Muscle Leg	muscle
50	chr5:151260000-151260400	Enhancers	Brain Germinal Matrix	brain

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