Variant report

Variant	rs7142218
Chromosome Location	chr14:65704433-65704434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:65703678-65704463	IMR90	lung:	n/a	chr14:65703843-65703854

No data

(count:7 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1256481	0.94[EUR][1000 genomes]
rs1256485	0.91[EUR][1000 genomes]
rs1256487	0.86[EUR][1000 genomes]
rs1256489	0.91[EUR][1000 genomes]
rs1256490	0.91[EUR][1000 genomes]
rs1256491	0.91[EUR][1000 genomes]
rs1256492	0.91[EUR][1000 genomes]
rs1256493	0.91[EUR][1000 genomes]
rs1256495	0.91[EUR][1000 genomes]
rs1256496	0.91[EUR][1000 genomes]
rs1256497	0.91[EUR][1000 genomes]
rs1256498	0.93[EUR][1000 genomes]
rs1262271	0.91[EUR][1000 genomes]
rs1270077	0.81[EUR][1000 genomes]
rs1760969	0.86[EUR][1000 genomes]
rs2086465	0.94[EUR][1000 genomes]
rs57454873	0.98[EUR][1000 genomes]
rs59978001	0.96[EUR][1000 genomes]
rs61170796	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61989807	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7142951	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7146907	0.96[EUR][1000 genomes]
rs7148235	0.98[ASN][1000 genomes]
rs8015540	0.94[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65704800	Weak transcription	Lung	lung
2	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:65697400-65704600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:65697400-65706000	Weak transcription	Spleen	Spleen
5	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:65697600-65704600	Weak transcription	K562	blood
7	chr14:65698800-65704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:65698800-65704600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:65698800-65706000	Weak transcription	Brain Angular Gyrus	brain
12	chr14:65698800-65706200	Weak transcription	Pancreas	Pancrea
13	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:65699200-65704600	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:65701200-65707000	Enhancers	Placenta	Placenta
16	chr14:65701600-65704600	Weak transcription	Left Ventricle	heart
17	chr14:65703000-65704600	Enhancers	HepG2	liver
18	chr14:65703000-65706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:65703000-65706800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:65703000-65707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:65703000-65707000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:65703000-65707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:65703200-65704600	Enhancers	A549	lung
24	chr14:65703200-65704800	Enhancers	NH-A	brain
25	chr14:65703200-65705000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:65703200-65705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:65703200-65706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:65703200-65706200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:65703200-65706600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:65703200-65706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:65703200-65706600	Enhancers	HMEC	breast
32	chr14:65703200-65706800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:65703200-65706800	Enhancers	NHLF	lung
34	chr14:65703200-65706800	Enhancers	Osteobl	bone
35	chr14:65703200-65707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:65703200-65707000	Enhancers	NHDF-Ad	bronchial
37	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
38	chr14:65703400-65704600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:65703400-65706000	Enhancers	Stomach Mucosa	stomach
40	chr14:65703400-65706000	Enhancers	NHEK	skin
41	chr14:65703400-65706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:65703400-65706800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:65703400-65707000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
45	chr14:65703600-65705200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr14:65703600-65706600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:65703600-65706600	Enhancers	HSMM	muscle
48	chr14:65703600-65706800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:65703600-65707000	Enhancers	Brain Anterior Caudate	brain
50	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain

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