Variant report

Variant	nsv462430
Chromosome Location	chr5:120528554-120589773
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	chr5:120587704-120588047	A549	lung:	n/a	n/a
2	BCL3	chr5:120587530-120588099	A549	lung:	n/a	n/a
3	BHLHE40	chr5:120582702-120582968	HepG2	liver:	n/a	n/a
4	BRCA1	chr5:120576292-120576344	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr5:120587730-120588017	HCT-116	colon:	n/a	n/a
6	CBX3	chr5:120563378-120563655	K562	blood:	n/a	n/a
7	CEBPB	chr5:120587647-120588158	A549	lung:	n/a	n/a
8	CEBPB	chr5:120587649-120588101	HCT-116	colon:	n/a	n/a
9	CEBPB	chr5:120587696-120588057	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr5:120535010-120535378	IMR90	lung:	n/a	n/a
11	CEBPB	chr5:120534992-120535592	Hela-S3	cervix:	n/a	chr5:120534993-120535006
12	CEBPB	chr5:120587556-120588192	A549	lung:	n/a	n/a
13	CEBPB	chr5:120587635-120588242	HCT-116	colon:	n/a	n/a
14	CEBPB	chr5:120587688-120588575	A549	lung:	n/a	n/a
15	CTCF	chr5:120572705-120572800	GM10266	blood:	n/a	n/a
16	CTCF	chr5:120584667-120584738	Lung_OC	lung:	n/a	n/a
17	CTCF	chr5:120584373-120584407	GM10248	blood:	n/a	n/a
18	CTCF	chr5:120584335-120584393	GM19239	blood:	n/a	n/a
19	CTCF	chr5:120548668-120548698	Fibrobl	skin:	n/a	n/a
20	E2F4	chr5:120587526-120588148	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr5:120534960-120535258	SK-N-SH_RA	brain:	n/a	chr5:120534988-120534997
22	EP300	chr5:120587619-120588091	SK-N-SH_RA	brain:	n/a	chr5:120587785-120587799
23	EP300	chr5:120587662-120588154	SK-N-SH_RA	brain:	n/a	chr5:120587785-120587799
24	EP300	chr5:120587691-120587964	Hela-S3	cervix:	n/a	chr5:120587785-120587799
25	EP300	chr5:120587480-120588202	A549	lung:	n/a	chr5:120587785-120587799
26	EP300	chr5:120589664-120590065	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr5:120534892-120535215	SK-N-SH_RA	brain:	n/a	chr5:120534988-120534997
28	EP300	chr5:120587472-120588293	A549	lung:	n/a	chr5:120587785-120587799
29	FOS	chr5:120570759-120571003	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr5:120538409-120538473	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr5:120587380-120588355	HUVEC	blood vessel:	n/a	n/a
32	FOS	chr5:120544447-120544649	MCF10A-Er-Src	breast:	n/a	chr5:120544626-120544638
33	FOS	chr5:120587606-120588067	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr5:120587335-120588721	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr5:120587621-120588085	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr5:120568625-120568825	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr5:120544490-120544621	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr5:120568958-120569127	HUVEC	blood vessel:	n/a	n/a
39	FOS	chr5:120587512-120588650	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr5:120588373-120588623	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr5:120588335-120588634	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL1	chr5:120587607-120588116	HCT-116	colon:	n/a	n/a
43	FOSL2	chr5:120587466-120588733	A549	lung:	n/a	n/a
44	FOSL2	chr5:120587591-120587982	SK-N-SH	brain:	n/a	n/a
45	FOSL2	chr5:120587600-120588039	A549	lung:	n/a	n/a
46	FOXA1	chr5:120587589-120588009	HepG2	liver:	n/a	n/a
47	FOXA1	chr5:120587590-120587987	A549	lung:	n/a	n/a
48	FOXA2	chr5:120587419-120588138	A549	lung:	n/a	chr5:120587457-120587469
49	GATA1	chr5:120537208-120537901	PBDEFetal	blood:	n/a	n/a
50	GATA2	chr5:120587612-120588183	HUVEC	blood vessel:	n/a	chr5:120587832-120587846 chr5:120587833-120587849 chr5:120587837-120587846

No.	Distal block	Cell Line	Cell type
1	chr5:120525427..120527646-chr5:120529318..120531590,2	K562	blood:
2	chr5:120544152..120546595-chr5:120554469..120557280,2	K562	blood:
3	chr5:120539543..120541398-chr5:120544523..120546831,2	K562	blood:
4	chr5:120539543..120541398-chr5:120544523..120546831,2	K562	blood:
5	chr5:120544152..120546595-chr5:120554469..120557280,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTMT-2	chr5:120535399-120535503	ENSG00000229855.4
2	lnc-FTMT-2	chr5:120540703-120540825	ENSG00000229855.4
3	lnc-LOX-8	chr5:120531675-120531905	NONHSAT103452

Variant related genes	Relation type
ENSG00000229855	TF binding region
ENSG00000250847	TF binding region

Extended variants
information (count: 958 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556804264	chr5:120531721-120531722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs139466046	chr5:120531732-120531733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs13173120	chr5:120531766-120531767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs13173123	chr5:120531769-120531770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs111588775	chr5:120531788-120531789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs367844545	chr5:120531800-120531801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs13173251	chr5:120531802-120531803	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs554699685	chr5:120531805-120531806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs13155717	chr5:120531806-120531807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs13155720	chr5:120531816-120531817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs13173420	chr5:120531818-120531819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs13155728	chr5:120531828-120531829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs13173727	chr5:120531848-120531849	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs13173279	chr5:120531851-120531852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs540125676	chr5:120531896-120531897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs560696875	chr5:120532905-120532906	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs147116941	chr5:120533562-120533563	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs574105184	chr5:120533568-120533569	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs544078270	chr5:120533577-120533578	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs72793845	chr5:120533578-120533579	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148178245	chr5:120533598-120533599	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs543776581	chr5:120533609-120533610	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs574566239	chr5:120533616-120533617	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs547748547	chr5:120533620-120533621	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs575469495	chr5:120533902-120533903	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs556445560	chr5:120533950-120533951	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs568232634	chr5:120533956-120533957	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs182460355	chr5:120533985-120533986	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs369089222	chr5:120534012-120534013	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs114843195	chr5:120534060-120534061	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs141096906	chr5:120534095-120534096	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs577232991	chr5:120534229-120534230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546308829	chr5:120534230-120534231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558422852	chr5:120534246-120534247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57917886	chr5:120534264-120534265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543624493	chr5:120534276-120534277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373166953	chr5:120534277-120534278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562419941	chr5:120534321-120534322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553900414	chr5:120534336-120534337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377351730	chr5:120534340-120534341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541471757	chr5:120534353-120534354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559709926	chr5:120534361-120534362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60425411	chr5:120534374-120534375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527419501	chr5:120534385-120534386	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs17448969	chr5:120534423-120534424	Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544104458	chr5:120534439-120534440	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs189118139	chr5:120534458-120534459	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs549671859	chr5:120534459-120534460	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs568345173	chr5:120534465-120534466	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs535742930	chr5:120534468-120534469	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120534200-120534600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:120534200-120534600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:120534400-120534600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:120534400-120534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:120534400-120534600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:120534400-120534600	Enhancers	Fetal Lung	lung
7	chr5:120534400-120534800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:120534400-120534800	Enhancers	NHDF-Ad	bronchial
9	chr5:120534400-120534800	Enhancers	Osteobl	bone
10	chr5:120534400-120535000	Enhancers	Fetal Heart	heart
11	chr5:120534400-120535200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:120534600-120534800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:120534600-120534800	Flanking Active TSS	Fetal Lung	lung
14	chr5:120534600-120535000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:120534600-120535000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:120534600-120535000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:120534600-120535000	Enhancers	Adipose Nuclei	Adipose
18	chr5:120534600-120535000	Enhancers	Ovary	ovary
19	chr5:120534600-120535200	Enhancers	Fetal Brain Male	brain
20	chr5:120534600-120535200	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:120534600-120535400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:120534600-120535400	Enhancers	Dnd41	blood
23	chr5:120534600-120535400	Active TSS	NHLF	lung
24	chr5:120534600-120535600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:120534800-120535000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:120534800-120535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:120534800-120535200	Enhancers	Fetal Lung	lung
28	chr5:120534800-120535200	Active TSS	NHDF-Ad	bronchial
29	chr5:120534800-120535200	Active TSS	Osteobl	bone
30	chr5:120534800-120535400	Active TSS	A549	lung
31	chr5:120535000-120535200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:120535000-120535200	Enhancers	Right Atrium	heart
33	chr5:120535000-120535400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:120535000-120535400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:120535000-120535400	Active TSS	Adipose Nuclei	Adipose
36	chr5:120535000-120535400	Active TSS	Brain Anterior Caudate	brain
37	chr5:120535000-120535400	Active TSS	Brain Hippocampus Middle	brain
38	chr5:120535000-120535400	Active TSS	Stomach Smooth Muscle	stomach
39	chr5:120535000-120535600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:120535000-120535600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr5:120535200-120535400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:120535200-120535400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:120535400-120535600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:120535400-120535600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:120535400-120535600	Flanking Active TSS	A549	lung
46	chr5:120540200-120540600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:120545200-120545800	Enhancers	Dnd41	blood
48	chr5:120545800-120551600	Weak transcription	Dnd41	blood
49	chr5:120551600-120554400	Enhancers	Dnd41	blood
50	chr5:120551800-120552400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links