Variant report

Variant	rs56060562
Chromosome Location	chr14:65706274-65706275
allele	C/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	RFX5	chr14:65706096-65706388	HepG2	liver:	n/a	n/a
2	TBL1XR1	chr14:65706154-65706295	K562	blood:	n/a	n/a
3	NR2F2	chr14:65705951-65706629	MCF-7	breast:	n/a	n/a
4	TCF12	chr14:65705654-65706450	SK-N-SH	brain:	n/a	n/a
5	EP300	chr14:65705031-65706283	SK-N-SH	brain:	n/a	chr14:65706239-65706252
6	PBX3	chr14:65705697-65706332	SK-N-SH	brain:	n/a	n/a
7	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
8	TBP	chr14:65705922-65706489	HepG2	liver:	n/a	n/a
9	JUND	chr14:65706176-65706411	K562	blood:	n/a	n/a
10	TCF12	chr14:65705057-65706493	SK-N-SH	brain:	n/a	n/a
11	BHLHE40	chr14:65706099-65706405	K562	blood:	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	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	CEBPB	chr14:65705224-65706322	HepG2	liver:	n/a	n/a
16	SMC3	chr14:65705782-65706366	HepG2	liver:	n/a	n/a
17	RAD21	chr14:65705967-65706304	HepG2	liver:	n/a	chr14:65706222-65706241
18	NR2F2	chr14:65706116-65706396	K562	blood:	n/a	n/a
19	GATA3	chr14:65706219-65706378	MCF-7	breast:	n/a	chr14:65706285-65706292 chr14:65706284-65706292 chr14:65706278-65706299 chr14:65706285-65706292 chr14:65706285-65706292 chr14:65706235-65706245
20	MAZ	chr14:65706071-65706421	K562	blood:	n/a	n/a
21	MAX	chr14:65706179-65706355	HepG2	liver:	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	RAD21	chr14:65705963-65706316	HepG2	liver:	n/a	chr14:65706222-65706241
24	POLR2A	chr14:65704603-65706921	HepG2	liver:	n/a	n/a
25	BHLHE40	chr14:65705816-65706360	HepG2	liver:	n/a	n/a
26	MYC	chr14:65706241-65706325	HepG2	liver:	n/a	n/a
27	PBX3	chr14:65705863-65706284	SK-N-SH	brain:	n/a	n/a
28	GATA2	chr14:65706116-65706488	HUVEC	blood vessel:	n/a	chr14:65706285-65706292 chr14:65706278-65706299 chr14:65706285-65706292 chr14:65706285-65706292 chr14:65706235-65706245
29	POLR2A	chr14:65705796-65706417	HepG2	liver:	n/a	n/a
30	MXI1	chr14:65705855-65706522	HepG2	liver:	n/a	n/a
31	EP300	chr14:65705889-65706443	HepG2	liver:	n/a	chr14:65706239-65706252
32	TAL1	chr14:65706174-65706356	K562	blood:	n/a	chr14:65706285-65706293
33	ARID3A	chr14:65706131-65706466	HepG2	liver:	n/a	n/a
34	EP300	chr14:65706175-65706375	K562	blood:	n/a	chr14:65706239-65706252
35	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
36	ATF1	chr14:65706101-65706348	K562	blood:	n/a	n/a
37	POLR2A	chr14:65706034-65706497	HepG2	liver:	n/a	n/a
38	RCOR1	chr14:65706086-65706387	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65696604..65698657-chr14:65706204..65708336,3	K562	blood:
2	chr14:65703192..65707325-chr14:65876761..65880324,6	MCF-7	breast:
3	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
4	chr14:65703585..65706555-chr14:65877263..65880566,3	MCF-7	breast:
5	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
6	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:

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]
rs56832874	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:73 , 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	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:65701200-65707000	Enhancers	Placenta	Placenta
5	chr14:65703000-65706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:65703000-65706800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:65703000-65707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:65703000-65707000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:65703000-65707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:65703200-65706600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:65703200-65706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:65703200-65706600	Enhancers	HMEC	breast
13	chr14:65703200-65706800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:65703200-65706800	Enhancers	NHLF	lung
15	chr14:65703200-65706800	Enhancers	Osteobl	bone
16	chr14:65703200-65707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:65703200-65707000	Enhancers	NHDF-Ad	bronchial
18	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
19	chr14:65703400-65706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:65703400-65706800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:65703400-65707000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
23	chr14:65703600-65706600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:65703600-65706600	Enhancers	HSMM	muscle
25	chr14:65703600-65706800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:65703600-65707000	Enhancers	Brain Anterior Caudate	brain
27	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain
28	chr14:65704000-65706800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:65704000-65707200	Enhancers	HUVEC	blood vessel
30	chr14:65704200-65706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:65704200-65706800	Enhancers	Hela-S3	cervix
32	chr14:65704400-65707000	Enhancers	Colonic Mucosa	Colon
33	chr14:65704600-65706400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr14:65704600-65706400	Enhancers	HSMMtube	muscle
35	chr14:65704600-65706400	Enhancers	K562	blood
36	chr14:65704600-65706600	Enhancers	Left Ventricle	heart
37	chr14:65704600-65707000	Enhancers	Brain Hippocampus Middle	brain
38	chr14:65704600-65707000	Flanking Active TSS	HepG2	liver
39	chr14:65704800-65706400	Enhancers	Ovary	ovary
40	chr14:65704800-65706600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:65704800-65706600	Enhancers	Lung	lung
42	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
43	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:65705200-65706800	Enhancers	NH-A	brain
46	chr14:65705400-65706800	Enhancers	A549	lung
47	chr14:65705600-65706400	Enhancers	Gastric	stomach
48	chr14:65705600-65706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:65705800-65706400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr14:65705800-65706600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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