Variant report

Variant	rs4299072
Chromosome Location	chr14:65705258-65705259
allele	A/G
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	MAX	chr14:65705169-65705731	A549	lung:	n/a	n/a
2	TCF12	chr14:65704751-65705671	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr14:65705177-65705658	HepG2	liver:	n/a	n/a
4	RXRA	chr14:65705095-65705668	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr14:65705038-65705683	A549	lung:	n/a	chr14:65705421-65705432
6	FOXM1	chr14:65704974-65705612	ECC-1	luminal epithelium:	n/a	n/a
7	FOSL2	chr14:65705176-65705651	HepG2	liver:	n/a	chr14:65705421-65705432
8	EP300	chr14:65705031-65706283	SK-N-SH	brain:	n/a	chr14:65706239-65706252
9	TEAD4	chr14:65704892-65705728	ECC-1	luminal epithelium:	n/a	n/a
10	ZNF384	chr14:65705224-65705471	K562	blood:	n/a	n/a
11	SP1	chr14:65705102-65705689	A549	lung:	n/a	n/a
12	FOXA1	chr14:65705159-65705681	HepG2	liver:	n/a	n/a
13	TCF12	chr14:65704922-65705725	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr14:65705062-65705598	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr14:65705057-65706493	SK-N-SH	brain:	n/a	n/a
16	FOXA2	chr14:65705177-65705717	A549	lung:	n/a	n/a
17	JUND	chr14:65705124-65705602	HepG2	liver:	n/a	chr14:65705420-65705431
18	FOXA1	chr14:65705212-65705631	HepG2	liver:	n/a	n/a
19	FOS	chr14:65705248-65705587	MCF10A-Er-Src	breast:	n/a	chr14:65705420-65705431
20	CEBPB	chr14:65705215-65705578	A549	lung:	n/a	n/a
21	EP300	chr14:65705128-65705672	HepG2	liver:	n/a	n/a
22	EP300	chr14:65705061-65705717	A549	lung:	n/a	n/a
23	EP300	chr14:65704839-65705753	MCF-7	breast:	n/a	chr14:65704900-65704913 chr14:65704913-65704929
24	GATA3	chr14:65705095-65706509	SK-N-SH	brain:	n/a	chr14:65706285-65706292 chr14:65706284-65706292 chr14:65706278-65706299 chr14:65706285-65706292 chr14:65706285-65706292 chr14:65706235-65706245 chr14:65706041-65706050
25	NR2F2	chr14:65705069-65705773	MCF-7	breast:	n/a	n/a
26	TEAD4	chr14:65705164-65705584	A549	lung:	n/a	n/a
27	CEBPB	chr14:65705224-65706322	HepG2	liver:	n/a	n/a
28	HDAC2	chr14:65705161-65705619	HepG2	liver:	n/a	n/a
29	CEBPB	chr14:65705109-65705606	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:65705241-65705640	U87	brain:	n/a	n/a
31	POLR2A	chr14:65705241-65705641	U87	brain:	n/a	n/a
32	JUND	chr14:65705211-65705619	A549	lung:	n/a	chr14:65705420-65705431
33	FOXA1	chr14:65705258-65705533	HepG2	liver:	n/a	n/a
34	RXRA	chr14:65705233-65705519	HepG2	liver:	n/a	n/a
35	TEAD4	chr14:65705216-65705703	A549	lung:	n/a	n/a
36	NFIC	chr14:65704893-65705571	ECC-1	luminal epithelium:	n/a	n/a
37	FOS	chr14:65705238-65706052	MCF10A-Er-Src	breast:	n/a	chr14:65705420-65705431
38	EP300	chr14:65705046-65705678	ECC-1	luminal epithelium:	n/a	n/a
39	GATA3	chr14:65705119-65705728	MCF-7	breast:	n/a	n/a
40	JUND	chr14:65705241-65705589	HepG2	liver:	n/a	chr14:65705420-65705431
41	HDAC2	chr14:65705190-65705533	HepG2	liver:	n/a	n/a
42	TCF12	chr14:65705021-65705694	A549	lung:	n/a	n/a
43	JUND	chr14:65705206-65705552	A549	lung:	n/a	chr14:65705420-65705431
44	GATA3	chr14:65705062-65706385	SK-N-SH	brain:	n/a	chr14:65706285-65706292 chr14:65706284-65706292 chr14:65706278-65706299 chr14:65706285-65706292 chr14:65706285-65706292 chr14:65706235-65706245 chr14:65706041-65706050
45	FOSL2	chr14:65705186-65705726	HepG2	liver:	n/a	chr14:65705421-65705432
46	CEBPB	chr14:65705225-65706087	A549	lung:	n/a	n/a
47	FOSL2	chr14:65705118-65705707	MCF-7	breast:	n/a	chr14:65705421-65705432
48	POLR2A	chr14:65704603-65706921	HepG2	liver:	n/a	n/a
49	FOSL2	chr14:65705233-65705580	A549	lung:	n/a	chr14:65705421-65705432
50	NFIC	chr14:65705171-65705564	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65703192..65707325-chr14:65876761..65880324,6	MCF-7	breast:
2	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
3	chr14:65703585..65706555-chr14:65877263..65880566,3	MCF-7	breast:
4	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
5	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
6	chr14:65703346..65706250-chr14:65727582..65729755,2	MCF-7	breast:
7	chr14:65694009..65696273-chr14:65703311..65706029,2	K562	blood:

Variant related genes	Relation type
ENSG00000258878	TF binding region
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10143586	0.96[ASN][1000 genomes]
rs10143595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144720	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10146247	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146330	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101084	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57391747	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65697400-65706000	Weak transcription	Spleen	Spleen
3	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:65698800-65706000	Weak transcription	Brain Angular Gyrus	brain
5	chr14:65698800-65706200	Weak transcription	Pancreas	Pancrea
6	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:65701200-65707000	Enhancers	Placenta	Placenta
8	chr14:65703000-65706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:65703000-65706800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:65703000-65707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:65703000-65707000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:65703000-65707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:65703200-65705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:65703200-65706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:65703200-65706200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:65703200-65706600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:65703200-65706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:65703200-65706600	Enhancers	HMEC	breast
19	chr14:65703200-65706800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:65703200-65706800	Enhancers	NHLF	lung
21	chr14:65703200-65706800	Enhancers	Osteobl	bone
22	chr14:65703200-65707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:65703200-65707000	Enhancers	NHDF-Ad	bronchial
24	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
25	chr14:65703400-65706000	Enhancers	Stomach Mucosa	stomach
26	chr14:65703400-65706000	Enhancers	NHEK	skin
27	chr14:65703400-65706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:65703400-65706800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:65703400-65707000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
31	chr14:65703600-65706600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:65703600-65706600	Enhancers	HSMM	muscle
33	chr14:65703600-65706800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:65703600-65707000	Enhancers	Brain Anterior Caudate	brain
35	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain
36	chr14:65703800-65705400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:65703800-65706000	Enhancers	Adipose Nuclei	Adipose
38	chr14:65704000-65706800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:65704000-65707200	Enhancers	HUVEC	blood vessel
40	chr14:65704200-65706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:65704200-65706800	Enhancers	Hela-S3	cervix
42	chr14:65704400-65707000	Enhancers	Colonic Mucosa	Colon
43	chr14:65704600-65705400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:65704600-65705400	Flanking Active TSS	A549	lung
45	chr14:65704600-65705800	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:65704600-65705800	Weak transcription	Right Ventricle	heart
47	chr14:65704600-65706200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr14:65704600-65706400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr14:65704600-65706400	Enhancers	HSMMtube	muscle
50	chr14:65704600-65706400	Enhancers	K562	blood

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