Variant report

Variant	esv3348247
Chromosome Location	chr5:114734703-114737001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:114734352-114734795	IMR90	lung:	n/a	n/a
2	CEBPB	chr5:114734428-114734730	Hela-S3	cervix:	n/a	n/a
3	EP300	chr5:114734246-114735071	SK-N-SH	brain:	n/a	n/a
4	EP300	chr5:114734503-114734765	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr5:114734404-114734790	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr5:114734364-114734999	SK-N-SH	brain:	n/a	n/a
7	EP300	chr5:114734233-114734937	SK-N-SH	brain:	n/a	n/a
8	FOS	chr5:114734501-114734781	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:114734509-114734782	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr5:114734392-114734831	SK-N-SH	brain:	n/a	n/a
11	FOSL2	chr5:114734385-114734989	SK-N-SH	brain:	n/a	n/a
12	FOXM1	chr5:114734369-114735130	SK-N-SH	brain:	n/a	n/a
13	FOXM1	chr5:114734470-114734821	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr5:114734016-114735167	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr5:114734209-114734968	SK-N-SH	brain:	n/a	n/a
16	JUND	chr5:114734317-114735007	SK-N-SH	brain:	n/a	n/a
17	JUND	chr5:114734125-114735043	SK-N-SH	brain:	n/a	n/a
18	JUND	chr5:114734295-114734986	SK-N-SH	brain:	n/a	n/a
19	MAX	chr5:114734460-114734834	SK-N-SH	brain:	n/a	n/a
20	MEF2A	chr5:114734386-114734964	SK-N-SH	brain:	n/a	n/a
21	MYC	chr5:114734502-114734805	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr5:114734545-114734763	MCF10A-Er-Src	breast:	n/a	n/a
23	NFIC	chr5:114734398-114734949	SK-N-SH	brain:	n/a	n/a
24	NFIC	chr5:114734384-114734988	SK-N-SH	brain:	n/a	n/a
25	PBX3	chr5:114734361-114734872	SK-N-SH	brain:	n/a	n/a
26	PBX3	chr5:114734282-114734959	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr5:114734401-114734772	U87	brain:	n/a	n/a
28	POLR2A	chr5:114734511-114734745	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr5:114734357-114734860	SK-N-SH	brain:	n/a	n/a
30	RXRA	chr5:114734359-114734838	SK-N-SH	brain:	n/a	n/a
31	SIN3AK20	chr5:114734488-114734812	SK-N-SH	brain:	n/a	n/a
32	TAF1	chr5:114734513-114734794	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr5:114734184-114735076	SK-N-SH	brain:	n/a	n/a
34	TCF12	chr5:114734243-114735047	SK-N-SH	brain:	n/a	n/a
35	TEAD4	chr5:114734365-114734905	SK-N-SH	brain:	n/a	n/a
36	TEAD4	chr5:114734346-114734987	SK-N-SH	brain:	n/a	n/a
37	YY1	chr5:114734464-114734847	SK-N-SH	brain:	n/a	n/a

No data

Variant related genes	Relation type
AK3P4	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576211138	chr5:114734709-114734710	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs576257143	chr5:114734724-114734725	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs564983527	chr5:114734762-114734763	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2416408	chr5:114734784-114734785	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2416409	chr5:114734802-114734803	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560884249	chr5:114734817-114734818	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529903181	chr5:114734824-114734825	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2416410	chr5:114734832-114734833	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569667035	chr5:114734862-114734863	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs116542399	chr5:114734864-114734865	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs552430907	chr5:114734868-114734869	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs116025650	chr5:114734917-114734918	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181322967	chr5:114734928-114734929	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs79498092	chr5:114734945-114734946	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs544752058	chr5:114734974-114734975	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143494105	chr5:114734993-114734994	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2963755	chr5:114734994-114734995	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527309342	chr5:114734995-114734996	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs148888848	chr5:114735006-114735007	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569518231	chr5:114735013-114735014	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs143284437	chr5:114735036-114735037	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4431333	chr5:114735074-114735075	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538627424	chr5:114735084-114735085	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35324957	chr5:114735093-114735094	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs558399790	chr5:114735112-114735113	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376266814	chr5:114735123-114735124	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572093614	chr5:114735127-114735128	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114432157	chr5:114735171-114735172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141520488	chr5:114735188-114735189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4418090	chr5:114735222-114735223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561249635	chr5:114735230-114735231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370081564	chr5:114735236-114735237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372716707	chr5:114735247-114735248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4626329	chr5:114735272-114735273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138308750	chr5:114735307-114735308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13164257	chr5:114735359-114735360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs70976372	chr5:114735368-114735369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200439367	chr5:114735369-114735370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201445330	chr5:114735370-114735371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199767690	chr5:114735371-114735372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189189414	chr5:114735425-114735426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62372563	chr5:114735443-114735444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62372564	chr5:114735451-114735452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181884578	chr5:114735460-114735461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552522106	chr5:114735462-114735463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559624940	chr5:114735477-114735478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187393632	chr5:114735479-114735480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62372565	chr5:114735481-114735482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79530269	chr5:114735482-114735483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74613330	chr5:114735543-114735544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114729600-114737000	Weak transcription	NHLF	lung
2	chr5:114730000-114737800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:114731200-114738000	Weak transcription	Lung	lung
4	chr5:114732000-114735200	Enhancers	NHDF-Ad	bronchial
5	chr5:114732800-114738000	Weak transcription	HSMM	muscle
6	chr5:114733000-114738000	Weak transcription	NH-A	brain
7	chr5:114733000-114738000	Weak transcription	Osteobl	bone
8	chr5:114733800-114735000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:114734200-114735000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114734200-114735000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:114735000-114737800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114735000-114738000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:114735000-114738200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:114735200-114737800	Weak transcription	NHDF-Ad	bronchial
15	chr5:114737000-114737200	Enhancers	NHLF	lung

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