Variant report

Variant	rs57454873
Chromosome Location	chr14:65702594-65702595
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65700105..65703075-chr14:65877781..65880441,2	MCF-7	breast:
2	chr14:65700230..65702841-chr14:65877569..65880268,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1256481	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1256485	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256487	0.87[EUR][1000 genomes]
rs1256488	0.83[AMR][1000 genomes]
rs1256489	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256490	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256491	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256492	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256493	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256495	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256496	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1256497	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256498	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1262271	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1270077	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1760969	0.86[EUR][1000 genomes]
rs2086465	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59978001	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61170796	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61989807	0.97[EUR][1000 genomes]
rs7142218	0.98[EUR][1000 genomes]
rs7142951	0.97[EUR][1000 genomes]
rs7146907	0.94[EUR][1000 genomes]
rs72712447	0.96[ASN][1000 genomes]
rs8015540	0.88[AMR][1000 genomes];0.95[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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65693400-65704200	Weak transcription	Gastric	stomach
2	chr14:65696800-65703600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:65697200-65703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:65697200-65703200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:65697200-65703600	Weak transcription	HSMMtube	muscle
6	chr14:65697200-65704800	Weak transcription	Lung	lung
7	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:65697400-65703400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:65697400-65703400	Weak transcription	NHEK	skin
10	chr14:65697400-65703600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:65697400-65703600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:65697400-65704200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:65697400-65704400	Weak transcription	Colonic Mucosa	Colon
14	chr14:65697400-65704600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:65697400-65706000	Weak transcription	Spleen	Spleen
16	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:65697600-65703200	Weak transcription	NHLF	lung
18	chr14:65697600-65704600	Weak transcription	K562	blood
19	chr14:65697800-65703200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:65697800-65703200	Weak transcription	Osteobl	bone
21	chr14:65698200-65703400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:65698600-65703000	Weak transcription	Hela-S3	cervix
23	chr14:65698600-65703200	Weak transcription	A549	lung
24	chr14:65698600-65703200	Weak transcription	NH-A	brain
25	chr14:65698600-65703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:65698800-65703200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:65698800-65703200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:65698800-65703200	Weak transcription	HMEC	breast
29	chr14:65698800-65703600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:65698800-65703600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:65698800-65703600	Weak transcription	Brain Substantia Nigra	brain
32	chr14:65698800-65704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:65698800-65704200	Weak transcription	Small Intestine	intestine
34	chr14:65698800-65704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:65698800-65704600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:65698800-65706000	Weak transcription	Brain Angular Gyrus	brain
39	chr14:65698800-65706200	Weak transcription	Pancreas	Pancrea
40	chr14:65699000-65703600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:65699200-65703200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:65699200-65703200	Weak transcription	Fetal Intestine Large	intestine
44	chr14:65699200-65703400	Weak transcription	Stomach Mucosa	stomach
45	chr14:65699200-65703600	Weak transcription	Brain Anterior Caudate	brain
46	chr14:65699200-65704600	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:65701200-65707000	Enhancers	Placenta	Placenta
48	chr14:65701600-65702600	Enhancers	HepG2	liver
49	chr14:65701600-65704600	Weak transcription	Left Ventricle	heart
50	chr14:65701800-65703000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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