Variant report

Variant	rs56832874
Chromosome Location	chr14:65705119-65705120
allele	A/C
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	TCF12	chr14:65704751-65705671	ECC-1	luminal epithelium:	n/a	n/a
2	RXRA	chr14:65705095-65705668	SK-N-SH	brain:	n/a	n/a
3	FOSL2	chr14:65705038-65705683	A549	lung:	n/a	chr14:65705421-65705432
4	FOXM1	chr14:65704974-65705612	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr14:65705031-65706283	SK-N-SH	brain:	n/a	chr14:65706239-65706252
6	TEAD4	chr14:65704892-65705728	ECC-1	luminal epithelium:	n/a	n/a
7	SP1	chr14:65705102-65705689	A549	lung:	n/a	n/a
8	RCOR1	chr14:65704638-65705168	K562	blood:	n/a	n/a
9	TCF12	chr14:65704922-65705725	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr14:65705062-65705598	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr14:65705057-65706493	SK-N-SH	brain:	n/a	n/a
12	EP300	chr14:65705061-65705717	A549	lung:	n/a	n/a
13	EP300	chr14:65704839-65705753	MCF-7	breast:	n/a	chr14:65704900-65704913 chr14:65704913-65704929
14	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
15	NR2F2	chr14:65705069-65705773	MCF-7	breast:	n/a	n/a
16	POLR2A	chr14:65704525-65705219	HCT-116	colon:	n/a	n/a
17	CEBPB	chr14:65705109-65705606	MCF-7	breast:	n/a	n/a
18	NFIC	chr14:65704893-65705571	ECC-1	luminal epithelium:	n/a	n/a
19	EP300	chr14:65705046-65705678	ECC-1	luminal epithelium:	n/a	n/a
20	GATA3	chr14:65705119-65705728	MCF-7	breast:	n/a	n/a
21	TCF12	chr14:65705021-65705694	A549	lung:	n/a	n/a
22	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
23	FOSL2	chr14:65705118-65705707	MCF-7	breast:	n/a	chr14:65705421-65705432
24	EP300	chr14:65704686-65705128	K562	blood:	n/a	chr14:65704900-65704913 chr14:65704913-65704929
25	POLR2A	chr14:65704603-65706921	HepG2	liver:	n/a	n/a
26	TEAD4	chr14:65704913-65705659	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr14:65705117-65705444	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr14:65705075-65706016	A549	lung:	n/a	n/a
29	GATA3	chr14:65705009-65705807	A549	lung:	n/a	n/a
30	CEBPB	chr14:65705093-65706162	Hela-S3	cervix:	n/a	n/a
31	ARID3A	chr14:65704844-65705411	HepG2	liver:	n/a	n/a
32	EP300	chr14:65704785-65705790	ECC-1	luminal epithelium:	n/a	chr14:65704900-65704913 chr14:65704913-65704929
33	FOSL1	chr14:65704674-65705763	HCT-116	colon:	n/a	n/a
34	JUN	chr14:65705112-65705570	HepG2	liver:	n/a	n/a
35	TEAD4	chr14:65705019-65705693	HepG2	liver:	n/a	n/a
36	RXRA	chr14:65705048-65706372	SK-N-SH	brain:	n/a	chr14:65706206-65706222 chr14:65706207-65706220 chr14:65706206-65706220 chr14:65706347-65706361 chr14:65706207-65706220
37	SP1	chr14:65705116-65705689	A549	lung:	n/a	n/a
38	TBP	chr14:65704809-65705329	HepG2	liver:	n/a	n/a
39	RAD21	chr14:65704978-65705614	ECC-1	luminal epithelium:	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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11847250	1.00[AMR][1000 genomes]
rs11847283	1.00[AMR][1000 genomes]
rs11848132	1.00[AMR][1000 genomes]
rs11848157	1.00[AMR][1000 genomes]
rs11851673	1.00[AMR][1000 genomes]
rs11852095	1.00[AMR][1000 genomes]
rs12588190	0.84[AFR][1000 genomes]
rs56060562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57894445	1.00[AMR][1000 genomes]
rs57933888	1.00[AMR][1000 genomes]
rs58812872	1.00[AMR][1000 genomes]
rs60278298	1.00[AMR][1000 genomes]
rs73276106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276145	1.00[AMR][1000 genomes]
rs73276151	1.00[AMR][1000 genomes]
rs73276162	1.00[AMR][1000 genomes]
rs73276165	1.00[AMR][1000 genomes]
rs73276167	1.00[AMR][1000 genomes]
rs73276168	1.00[AMR][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:72 , 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	chr14:65703600-65705200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr14:65703600-65706600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:65703600-65706600	Enhancers	HSMM	muscle
34	chr14:65703600-65706800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:65703600-65707000	Enhancers	Brain Anterior Caudate	brain
36	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain
37	chr14:65703800-65705200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:65703800-65705400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:65703800-65706000	Enhancers	Adipose Nuclei	Adipose
40	chr14:65704000-65706800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:65704000-65707200	Enhancers	HUVEC	blood vessel
42	chr14:65704200-65705200	Enhancers	Gastric	stomach
43	chr14:65704200-65706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:65704200-65706800	Enhancers	Hela-S3	cervix
45	chr14:65704400-65707000	Enhancers	Colonic Mucosa	Colon
46	chr14:65704600-65705200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:65704600-65705200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:65704600-65705400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr14:65704600-65705400	Flanking Active TSS	A549	lung
50	chr14:65704600-65705800	Enhancers	Duodenum Mucosa	Duodenum

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