Variant report

Variant	rs8012126
Chromosome Location	chr14:32726942-32726943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32544361..32548285-chr14:32726893..32730492,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100852	Chromatin interaction
ENSG00000258655	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1007279	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10145223	0.81[EUR][1000 genomes]
rs1951680	0.81[EUR][1000 genomes]
rs2208869	0.85[EUR][1000 genomes]
rs2383310	0.85[EUR][1000 genomes]
rs4981953	0.87[EUR][1000 genomes]
rs4981956	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6571502	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6571507	0.86[EUR][1000 genomes]
rs7144586	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7155347	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7160483	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7161530	0.81[EUR][1000 genomes]
rs7161546	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8005191	0.85[EUR][1000 genomes]
rs8011923	0.81[EUR][1000 genomes]
rs8014494	0.88[EUR][1000 genomes]
rs8023125	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv564184	chr14:32688214-32734691	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr14:32715200-32727600	Weak transcription	Psoas Muscle	Psoas
2	chr14:32719000-32737600	Weak transcription	Left Ventricle	heart
3	chr14:32719400-32727800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:32719600-32727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:32721200-32727600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:32721400-32728800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:32721400-32728800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:32721400-32729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:32721400-32733000	Weak transcription	Fetal Heart	heart
10	chr14:32721600-32727800	Weak transcription	NHEK	skin
11	chr14:32721800-32728200	Weak transcription	HMEC	breast
12	chr14:32724200-32727600	Weak transcription	Fetal Kidney	kidney
13	chr14:32724400-32727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:32724600-32727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:32724600-32727600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:32724600-32727600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:32724600-32727600	Weak transcription	Fetal Intestine Small	intestine
18	chr14:32724600-32727600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:32724600-32727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:32724600-32728000	Weak transcription	Fetal Intestine Large	intestine
21	chr14:32724600-32728000	Weak transcription	Hela-S3	cervix
22	chr14:32724600-32732400	Weak transcription	Pancreas	Pancrea
23	chr14:32724800-32727600	Weak transcription	Fetal Lung	lung
24	chr14:32724800-32727600	Weak transcription	Fetal Stomach	stomach
25	chr14:32724800-32727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:32724800-32728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:32724800-32728000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:32724800-32728200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:32724800-32728400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:32724800-32728800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:32724800-32729000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:32725000-32727800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:32725000-32727800	Weak transcription	Brain Substantia Nigra	brain
34	chr14:32725200-32727200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:32725200-32727600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:32725200-32732400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:32725400-32727400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:32725400-32727600	Weak transcription	Right Atrium	heart
39	chr14:32725400-32727600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:32725800-32727000	Enhancers	A549	lung
41	chr14:32725800-32727600	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:32726000-32727600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:32726000-32728000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:32726000-32728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:32726000-32732000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:32726000-32732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:32726200-32727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:32726400-32729600	Enhancers	HepG2	liver
49	chr14:32726600-32727400	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:32726800-32728800	Enhancers	Dnd41	blood

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