Variant report

Variant	esv3468768
Chromosome Location	chr5:7915552-7920850
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	BHLHE40	chr5:7918663-7918695	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:7917486-7917794	Hela-S3	cervix:	n/a	chr5:7917640-7917651
3	CEBPB	chr5:7917463-7917820	IMR90	lung:	n/a	chr5:7917640-7917651
4	CEBPB	chr5:7917491-7917819	K562	blood:	n/a	chr5:7917640-7917651
5	CEBPB	chr5:7916374-7916378	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr5:7916275-7916581	HepG2	liver:	n/a	chr5:7916415-7916424 chr5:7916413-7916424 chr5:7916413-7916426
7	CEBPB	chr5:7916299-7916572	A549	lung:	n/a	chr5:7916415-7916424 chr5:7916413-7916424 chr5:7916413-7916426
8	CEBPB	chr5:7916240-7916585	Hela-S3	cervix:	n/a	chr5:7916415-7916424 chr5:7916413-7916424 chr5:7916413-7916426
9	CEBPB	chr5:7916238-7916591	IMR90	lung:	n/a	chr5:7916415-7916424 chr5:7916413-7916424 chr5:7916413-7916426
10	CEBPB	chr5:7917518-7917789	A549	lung:	n/a	chr5:7917640-7917651
11	CEBPB	chr5:7917466-7917815	HepG2	liver:	n/a	chr5:7917640-7917651
12	CTCF	chr5:7916400-7916550	AG09319	gingival:	n/a	n/a
13	CTCF	chr5:7916400-7916550	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr5:7916460-7916610	BJ	skin:	n/a	n/a
15	CTCF	chr5:7916640-7916790	AG09319	gingival:	n/a	n/a
16	CTCF	chr5:7915420-7915570	GM12873	blood:	n/a	n/a
17	CTCF	chr5:7916380-7916530	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr5:7916440-7916590	AG09309	skin:	n/a	n/a
19	CTCF	chr5:7916340-7916490	HMEC	breast:	n/a	n/a
20	CTCF	chr5:7916480-7916630	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:7916460-7916610	HEK293	kidney:	n/a	n/a
22	CTCF	chr5:7916460-7916610	HBMEC	blood vessel:	n/a	n/a
23	EP300	chr5:7918006-7918047	K562	blood:	n/a	n/a
24	FOS	chr5:7915833-7915856	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA2	chr5:7920040-7920268	A549	lung:	n/a	n/a
26	IRF1	chr5:7920575-7920740	K562	blood:	n/a	n/a
27	IRF1	chr5:7918658-7918797	K562	blood:	n/a	n/a
28	JUND	chr5:7916732-7917031	HepG2	liver:	n/a	chr5:7916901-7916910
29	MAFF	chr5:7917890-7918184	K562	blood:	n/a	chr5:7917995-7918013 chr5:7918033-7918051
30	MAFF	chr5:7917902-7918187	HepG2	liver:	n/a	chr5:7917995-7918013 chr5:7918033-7918051
31	MAFK	chr5:7917863-7918214	IMR90	lung:	n/a	chr5:7918035-7918050
32	MAFK	chr5:7917984-7918089	K562	blood:	n/a	chr5:7918035-7918050
33	MAFK	chr5:7917905-7918186	HepG2	liver:	n/a	chr5:7918035-7918050
34	MAFK	chr5:7917898-7918155	HepG2	liver:	n/a	chr5:7918035-7918050
35	POLR2A	chr5:7915702-7915705	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr5:7915508-7916964	HepG2	liver:	n/a	n/a
37	POLR2A	chr5:7916496-7916591	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:7916583-7916623	ProgFib	skin:	n/a	n/a
39	POLR2A	chr5:7917267-7917631	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr5:7915597-7915607	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:7916193-7916848	MCF10A-Er-Src	breast:	n/a	n/a
42	RAD21	chr5:7917670-7917673	HepG2	liver:	n/a	n/a
43	RCOR1	chr5:7917834-7917961	K562	blood:	n/a	n/a
44	STAT3	chr5:7915759-7915931	MCF10A-Er-Src	breast:	n/a	n/a
45	WRNIP1	chr5:7919207-7919210	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:7913593..7916151-chr5:7918931..7921579,2	K562	blood:
2	chr5:7908992..7910576-chr5:7919203..7920908,2	K562	blood:
3	chr5:7913593..7916151-chr5:7918931..7921579,2	K562	blood:

Variant related genes	Relation type
ENSG00000251168	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530653160	chr5:7915590-7915591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372229020	chr5:7915593-7915594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552512050	chr5:7915601-7915602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76500831	chr5:7915669-7915670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35610410	chr5:7915697-7915698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76558306	chr5:7915774-7915775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554690832	chr5:7915788-7915789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186081471	chr5:7915789-7915790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190858421	chr5:7915879-7915880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557350274	chr5:7915906-7915907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577437928	chr5:7915913-7915914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375740032	chr5:7915917-7915918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546193768	chr5:7915924-7915925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182663782	chr5:7915941-7915942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148065356	chr5:7915958-7915959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141772167	chr5:7915959-7915960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150141513	chr5:7916037-7916038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561804921	chr5:7916056-7916057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530601543	chr5:7916099-7916100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550778297	chr5:7916155-7916156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564142998	chr5:7916177-7916178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148349492	chr5:7916240-7916241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533214208	chr5:7916298-7916299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186487685	chr5:7916367-7916368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138565673	chr5:7916416-7916417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534739073	chr5:7916419-7916420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548263673	chr5:7916477-7916478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568570343	chr5:7916517-7916518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141737273	chr5:7916530-7916531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557493402	chr5:7916586-7916587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532726333	chr5:7916588-7916589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146340680	chr5:7916609-7916610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17245337	chr5:7916647-7916648	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572866765	chr5:7916723-7916724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544570852	chr5:7916732-7916733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11439168	chr5:7916797-7916798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3069767	chr5:7916798-7916799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139603451	chr5:7916803-7916804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555479732	chr5:7916810-7916811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs327579	chr5:7916819-7916820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191326187	chr5:7916852-7916853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142779578	chr5:7916876-7916877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375228163	chr5:7916890-7916891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369699856	chr5:7916891-7916892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374086009	chr5:7916892-7916893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552416383	chr5:7916912-7916913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144218991	chr5:7916935-7916936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148797407	chr5:7916936-7916937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560052536	chr5:7916959-7916960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528448224	chr5:7916982-7916983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
early-passage human iPS cells	21368824	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7903600-7916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:7904400-7915800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:7906200-7916400	Weak transcription	NHEK	skin
4	chr5:7908800-7915600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:7909600-7915600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:7909600-7916400	Weak transcription	HSMMtube	muscle
7	chr5:7909800-7917600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:7912800-7915600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:7915200-7917000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:7915400-7917200	Enhancers	Osteobl	bone
11	chr5:7915600-7915800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:7915600-7916800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:7915600-7917000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:7915800-7916800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:7916000-7916200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:7916200-7916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:7916400-7916600	Enhancers	NHEK	skin
18	chr5:7916400-7916800	Enhancers	HSMMtube	muscle
19	chr5:7917600-7918000	Enhancers	Rectal Mucosa Donor 31	rectum

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