Variant report

Variant	rs73393795
Chromosome Location	chr12:117314368-117314369
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	chr12:117256194..117258778-chr12:117314042..117315845,3	MCF-7	breast:
2	chr12:117313789..117315908-chr12:117316837..117318832,3	K562	blood:

Variant related genes	Relation type
ENSG00000135116	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11068221	1.00[AMR][1000 genomes]
rs11068222	1.00[AMR][1000 genomes]
rs12227855	0.83[AMR][1000 genomes]
rs12311024	1.00[AMR][1000 genomes]
rs12311027	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316109	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489658	0.83[AMR][1000 genomes]
rs57654988	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58117463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393784	0.85[AFR][1000 genomes]
rs73393787	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393789	0.83[AMR][1000 genomes]
rs73393793	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393797	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117312600-117316000	Weak transcription	Primary B cells from cord blood	blood
2	chr12:117312800-117316400	Weak transcription	Right Atrium	heart
3	chr12:117313600-117315200	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr12:117313800-117314600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:117313800-117314600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:117313800-117314800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr12:117313800-117315000	Bivalent Enhancer	Brain Anterior Caudate	brain
8	chr12:117314000-117314400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
9	chr12:117314000-117314400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr12:117314000-117314400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:117314000-117314400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:117314000-117314400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:117314000-117314400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:117314000-117314600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:117314000-117314600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:117314000-117314600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:117314000-117314600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:117314000-117314600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:117314000-117314800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:117314000-117314800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:117314000-117314800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:117314000-117314800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr12:117314000-117314800	Enhancers	Brain Angular Gyrus	brain
24	chr12:117314000-117314800	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:117314000-117314800	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr12:117314000-117314800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr12:117314000-117314800	Bivalent Enhancer	HepG2	liver
28	chr12:117314000-117315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:117314000-117315000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr12:117314000-117316000	Bivalent Enhancer	Fetal Thymus	thymus
31	chr12:117314000-117316400	Weak transcription	Gastric	stomach
32	chr12:117314200-117314400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:117314200-117314400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:117314200-117314400	Bivalent Enhancer	Brain Hippocampus Middle	brain
35	chr12:117314200-117314400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr12:117314200-117314400	Bivalent Enhancer	Fetal Brain Female	brain
37	chr12:117314200-117314400	Enhancers	Thymus	Thymus
38	chr12:117314200-117314400	Bivalent Enhancer	NH-A	brain
39	chr12:117314200-117314600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr12:117314200-117314600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:117314200-117314800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:117314200-117314800	Enhancers	Brain Inferior Temporal Lobe	brain

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