Variant report

Variant	rs2151754
Chromosome Location	chr14:65706015-65706016
allele	C/T
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	POLR2A	chr14:65705797-65706211	SK-N-SH	brain:	n/a	n/a
2	NR2F2	chr14:65705951-65706629	MCF-7	breast:	n/a	n/a
3	TCF12	chr14:65705654-65706450	SK-N-SH	brain:	n/a	n/a
4	EP300	chr14:65705031-65706283	SK-N-SH	brain:	n/a	chr14:65706239-65706252
5	PBX3	chr14:65705697-65706332	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr14:65705939-65706600	MCF-7	breast:	n/a	chr14:65706285-65706292 chr14:65706284-65706292 chr14:65706278-65706299 chr14:65706285-65706292 chr14:65706285-65706292 chr14:65706235-65706245 chr14:65706041-65706050
7	TBP	chr14:65705922-65706489	HepG2	liver:	n/a	n/a
8	MAFK	chr14:65705666-65706181	IMR90	lung:	n/a	chr14:65706038-65706047 chr14:65705719-65705734 chr14:65706060-65706071 chr14:65706038-65706048 chr14:65706060-65706071
9	TCF12	chr14:65705057-65706493	SK-N-SH	brain:	n/a	n/a
10	USF1	chr14:65705760-65706128	SK-N-SH	brain:	n/a	chr14:65705892-65705903
11	E2F4	chr14:65705946-65706030	MCF10A-Er-Src	breast:	n/a	n/a
12	MYBL2	chr14:65705924-65706375	HepG2	liver:	n/a	n/a
13	HDAC2	chr14:65705793-65706396	HepG2	liver:	n/a	n/a
14	USF1	chr14:65705744-65706092	SK-N-SH_RA	brain:	n/a	chr14:65705892-65705903
15	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
16	CEBPB	chr14:65705224-65706322	HepG2	liver:	n/a	n/a
17	SMC3	chr14:65705782-65706366	HepG2	liver:	n/a	n/a
18	RAD21	chr14:65705967-65706304	HepG2	liver:	n/a	chr14:65706222-65706241
19	EP300	chr14:65705754-65706163	SK-N-SH_RA	brain:	n/a	n/a
20	USF2	chr14:65705808-65706051	Hela-S3	cervix:	n/a	chr14:65705892-65705903
21	BRCA1	chr14:65705864-65706064	HepG2	liver:	n/a	n/a
22	FOS	chr14:65705238-65706052	MCF10A-Er-Src	breast:	n/a	chr14:65705420-65705431
23	JUND	chr14:65705870-65706263	HepG2	liver:	n/a	n/a
24	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
25	RAD21	chr14:65705963-65706316	HepG2	liver:	n/a	chr14:65706222-65706241
26	FOS	chr14:65705899-65706102	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr14:65705225-65706087	A549	lung:	n/a	n/a
28	RAD21	chr14:65705804-65706182	SK-N-SH_RA	brain:	n/a	n/a
29	POLR2A	chr14:65704603-65706921	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:65705135-65706193	U87	brain:	n/a	n/a
31	BHLHE40	chr14:65705816-65706360	HepG2	liver:	n/a	n/a
32	PBX3	chr14:65705863-65706284	SK-N-SH	brain:	n/a	n/a
33	CEBPB	chr14:65705075-65706016	A549	lung:	n/a	n/a
34	CEBPB	chr14:65705226-65706253	IMR90	lung:	n/a	n/a
35	POLR2A	chr14:65705796-65706417	HepG2	liver:	n/a	n/a
36	CEBPB	chr14:65705093-65706162	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr14:65705855-65706522	HepG2	liver:	n/a	n/a
38	EP300	chr14:65705889-65706443	HepG2	liver:	n/a	chr14:65706239-65706252
39	STAT3	chr14:65705912-65706097	MCF10A-Er-Src	breast:	n/a	chr14:65706069-65706077
40	USF2	chr14:65705841-65706187	HepG2	liver:	n/a	chr14:65705892-65705903
41	USF1	chr14:65705791-65706061	SK-N-SH_RA	brain:	n/a	chr14:65705892-65705903
42	EP300	chr14:65705875-65706140	SK-N-SH_RA	brain:	n/a	n/a
43	FOSL2	chr14:65705134-65706223	SK-N-SH	brain:	n/a	chr14:65705421-65705432
44	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
45	POLR2A	chr14:65705984-65706020	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:65705721-65706231	U87	brain:	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: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1383595	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4899169	0.86[CEU][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4899171	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56231407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987800	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61987803	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6573597	0.82[ASW][hapmap];0.88[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016230	0.82[ASW][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8022737	0.97[AMR][1000 genomes];0.86[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2151754	PDGFD	trans	lymphoblastoid	seeQTL

Chromatin state (count:76 , 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	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:65698800-65706200	Weak transcription	Pancreas	Pancrea
4	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:65701200-65707000	Enhancers	Placenta	Placenta
6	chr14:65703000-65706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:65703000-65706800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:65703000-65707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65703000-65707000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:65703000-65707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:65703200-65706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:65703200-65706200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:65703200-65706600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:65703200-65706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:65703200-65706600	Enhancers	HMEC	breast
16	chr14:65703200-65706800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:65703200-65706800	Enhancers	NHLF	lung
18	chr14:65703200-65706800	Enhancers	Osteobl	bone
19	chr14:65703200-65707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:65703200-65707000	Enhancers	NHDF-Ad	bronchial
21	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
22	chr14:65703400-65706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:65703400-65706800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr14:65703400-65707000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
26	chr14:65703600-65706600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65703600-65706600	Enhancers	HSMM	muscle
28	chr14:65703600-65706800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:65703600-65707000	Enhancers	Brain Anterior Caudate	brain
30	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain
31	chr14:65704000-65706800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:65704000-65707200	Enhancers	HUVEC	blood vessel
33	chr14:65704200-65706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:65704200-65706800	Enhancers	Hela-S3	cervix
35	chr14:65704400-65707000	Enhancers	Colonic Mucosa	Colon
36	chr14:65704600-65706200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr14:65704600-65706400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:65704600-65706400	Enhancers	HSMMtube	muscle
39	chr14:65704600-65706400	Enhancers	K562	blood
40	chr14:65704600-65706600	Enhancers	Left Ventricle	heart
41	chr14:65704600-65707000	Enhancers	Brain Hippocampus Middle	brain
42	chr14:65704600-65707000	Flanking Active TSS	HepG2	liver
43	chr14:65704800-65706400	Enhancers	Ovary	ovary
44	chr14:65704800-65706600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:65704800-65706600	Enhancers	Lung	lung
46	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
47	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:65705200-65706200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:65705200-65706200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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