Variant report

Variant	esv3471333
Chromosome Location	chr5:114731598-114739727
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	CEBPB	chr5:114734352-114734795	IMR90	lung:	n/a	n/a
2	CEBPB	chr5:114734428-114734730	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:114738603-114738961	IMR90	lung:	n/a	n/a
4	CTCF	chr5:114737140-114737290	NHDF-neo	bronchial:	n/a	n/a
5	EP300	chr5:114734404-114734790	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr5:114734246-114735071	SK-N-SH	brain:	n/a	n/a
7	EP300	chr5:114734503-114734765	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr5:114738384-114739271	SK-N-SH	brain:	n/a	chr5:114738765-114738773
9	EP300	chr5:114738219-114739192	SK-N-SH	brain:	n/a	chr5:114738765-114738773
10	EP300	chr5:114734233-114734937	SK-N-SH	brain:	n/a	n/a
11	EP300	chr5:114734364-114734999	SK-N-SH	brain:	n/a	n/a
12	FOS	chr5:114738553-114738983	MCF10A-Er-Src	breast:	n/a	chr5:114738819-114738827
13	FOS	chr5:114738624-114738959	MCF10A-Er-Src	breast:	n/a	chr5:114738819-114738827
14	FOS	chr5:114738630-114738935	MCF10A-Er-Src	breast:	n/a	chr5:114738819-114738827
15	FOS	chr5:114734501-114734781	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr5:114738668-114738939	MCF10A-Er-Src	breast:	n/a	chr5:114738819-114738827
17	FOS	chr5:114734509-114734782	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr5:114738391-114739137	SK-N-SH	brain:	n/a	chr5:114738819-114738827
19	FOSL2	chr5:114734385-114734989	SK-N-SH	brain:	n/a	n/a
20	FOSL2	chr5:114734392-114734831	SK-N-SH	brain:	n/a	n/a
21	FOSL2	chr5:114738613-114739012	SK-N-SH	brain:	n/a	chr5:114738819-114738827
22	FOXM1	chr5:114734470-114734821	SK-N-SH	brain:	n/a	n/a
23	FOXM1	chr5:114734369-114735130	SK-N-SH	brain:	n/a	n/a
24	GATA2	chr5:114731748-114732114	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr5:114732259-114732979	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr5:114738164-114739320	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr5:114731662-114732210	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr5:114734209-114734968	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr5:114738062-114739328	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr5:114731684-114733016	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr5:114731863-114732130	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr5:114734016-114735167	SK-N-SH	brain:	n/a	n/a
33	JUND	chr5:114734295-114734986	SK-N-SH	brain:	n/a	n/a
34	JUND	chr5:114734317-114735007	SK-N-SH	brain:	n/a	n/a
35	JUND	chr5:114734125-114735043	SK-N-SH	brain:	n/a	n/a
36	JUND	chr5:114738294-114739157	SK-N-SH	brain:	n/a	chr5:114738819-114738827
37	JUND	chr5:114738413-114739180	SK-N-SH	brain:	n/a	chr5:114738819-114738827
38	MAFK	chr5:114738658-114738746	IMR90	lung:	n/a	n/a
39	MAX	chr5:114734460-114734834	SK-N-SH	brain:	n/a	n/a
40	MEF2A	chr5:114738354-114739123	SK-N-SH	brain:	n/a	chr5:114738819-114738827
41	MEF2A	chr5:114734386-114734964	SK-N-SH	brain:	n/a	n/a
42	MYC	chr5:114734545-114734763	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr5:114734502-114734805	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr5:114738628-114738791	MCF10A-Er-Src	breast:	n/a	n/a
45	NFIC	chr5:114738060-114739340	SK-N-SH	brain:	n/a	chr5:114739067-114739083
46	NFIC	chr5:114734384-114734988	SK-N-SH	brain:	n/a	n/a
47	NFIC	chr5:114734398-114734949	SK-N-SH	brain:	n/a	n/a
48	PBX3	chr5:114738487-114739117	SK-N-SH	brain:	n/a	n/a
49	PBX3	chr5:114738216-114739134	SK-N-SH	brain:	n/a	n/a
50	PBX3	chr5:114734282-114734959	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:78319014..78319745-chr5:114738196..114738696,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP3S1-14	chr5:114738077-114738659	NONHSAT103303

Variant related genes	Relation type
ENSG00000249026	TF binding region
AK3P4	TF binding region

Extended variants
information (count: 436 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567085675	chr5:114731625-114731626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536109423	chr5:114731626-114731627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547896175	chr5:114731627-114731628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567670274	chr5:114731628-114731629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536757273	chr5:114731629-114731630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58474151	chr5:114731641-114731642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576510621	chr5:114731680-114731681	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs186509066	chr5:114731695-114731696	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374122244	chr5:114731726-114731727	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140968164	chr5:114731765-114731766	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs191817266	chr5:114731783-114731784	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555808233	chr5:114731796-114731797	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575750243	chr5:114731822-114731823	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569354558	chr5:114732032-114732033	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs544613973	chr5:114732049-114732050	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564598625	chr5:114732056-114732057	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs367672061	chr5:114732071-114732072	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371676296	chr5:114732074-114732075	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533450091	chr5:114732117-114732118	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs540486027	chr5:114732128-114732129	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560706366	chr5:114732152-114732153	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529560708	chr5:114732156-114732157	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs549611444	chr5:114732160-114732161	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2591250	chr5:114732166-114732167	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530453230	chr5:114732235-114732236	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs181440694	chr5:114732279-114732280	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186118031	chr5:114732292-114732293	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs570230845	chr5:114732293-114732294	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs1348679	chr5:114732337-114732338	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs552894896	chr5:114732341-114732342	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs566621006	chr5:114732377-114732378	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535283334	chr5:114732381-114732382	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560801827	chr5:114732402-114732403	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs372405806	chr5:114732412-114732413	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575585984	chr5:114732438-114732439	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs75608273	chr5:114732459-114732460	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs558149705	chr5:114732497-114732498	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs114635713	chr5:114732507-114732508	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540672838	chr5:114732607-114732608	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560527209	chr5:114732608-114732609	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529530310	chr5:114732609-114732610	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116628226	chr5:114732746-114732747	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574209994	chr5:114732752-114732753	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369224437	chr5:114732761-114732762	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2605186	chr5:114732767-114732768	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374716554	chr5:114732784-114732785	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112364421	chr5:114732786-114732787	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs570067474	chr5:114732805-114732806	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs536090473	chr5:114732807-114732808	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs532896156	chr5:114732831-114732832	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114729000-114731800	Weak transcription	Osteobl	bone
2	chr5:114729200-114732000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:114729400-114731800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:114729400-114734200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:114729600-114737000	Weak transcription	NHLF	lung
6	chr5:114730000-114732000	Weak transcription	NHDF-Ad	bronchial
7	chr5:114730000-114737800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:114731000-114731800	Enhancers	Gastric	stomach
9	chr5:114731200-114731800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:114731200-114738000	Weak transcription	Lung	lung
11	chr5:114731800-114732000	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:114731800-114733000	Enhancers	Osteobl	bone
13	chr5:114731800-114733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:114732000-114735200	Enhancers	NHDF-Ad	bronchial
15	chr5:114732200-114733000	Enhancers	NH-A	brain
16	chr5:114732400-114732600	Enhancers	HSMM	muscle
17	chr5:114732600-114732800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:114732800-114738000	Weak transcription	HSMM	muscle
19	chr5:114733000-114734200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:114733000-114738000	Weak transcription	NH-A	brain
21	chr5:114733000-114738000	Weak transcription	Osteobl	bone
22	chr5:114733400-114733800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:114733800-114735000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:114734200-114735000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:114734200-114735000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:114735000-114737800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:114735000-114738000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:114735000-114738200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:114735200-114737800	Weak transcription	NHDF-Ad	bronchial
30	chr5:114737000-114737200	Enhancers	NHLF	lung
31	chr5:114737200-114737600	Weak transcription	NHLF	lung
32	chr5:114737400-114738200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:114737600-114738600	Enhancers	Adipose Nuclei	Adipose
34	chr5:114737600-114739200	Enhancers	NHLF	lung
35	chr5:114737800-114738200	Enhancers	Fetal Muscle Trunk	muscle
36	chr5:114737800-114738200	Enhancers	Right Ventricle	heart
37	chr5:114737800-114738600	Enhancers	Right Atrium	heart
38	chr5:114737800-114739400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:114737800-114739400	Enhancers	NHDF-Ad	bronchial
40	chr5:114737800-114739800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:114738000-114738200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:114738000-114738200	Enhancers	NH-A	brain
43	chr5:114738000-114738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:114738000-114738400	Enhancers	Osteobl	bone
45	chr5:114738000-114738600	Enhancers	Lung	lung
46	chr5:114738000-114738600	Enhancers	Ovary	ovary
47	chr5:114738000-114738800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:114738000-114739200	Enhancers	HSMM	muscle
49	chr5:114738000-114739400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:114738200-114738400	Enhancers	Pancreas	Pancrea

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