Variant report

Variant	rs67694373
Chromosome Location	chr4:166305466-166305467
allele	A/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	EP300	chr4:166304751-166306592	SK-N-SH	brain:	n/a	chr4:166306102-166306112
2	FOXA1	chr4:166305190-166305473	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166299503..166302373-chr4:166303522..166305530,3	MCF-7	breast:
2	chr4:166304221..166306699-chr4:166307750..166310906,4	MCF-7	breast:

Variant related genes	Relation type
MIR578	TF binding region
ENSG00000109472	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs66912020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827512	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6850000	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6855889	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166301400-166305600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:166301400-166314800	Weak transcription	Fetal Kidney	kidney
3	chr4:166302000-166305800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:166302200-166314600	Weak transcription	Brain Substantia Nigra	brain
5	chr4:166302400-166305600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:166302400-166306600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:166302600-166306600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:166303000-166306800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:166303200-166306800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:166303200-166307400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:166303800-166307000	Enhancers	Fetal Lung	lung
12	chr4:166304000-166311000	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:166304200-166306600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:166304400-166305600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:166304400-166332400	Weak transcription	Brain Angular Gyrus	brain
16	chr4:166304600-166306400	Enhancers	Brain Anterior Caudate	brain
17	chr4:166304800-166305600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:166304800-166305800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:166304800-166305800	Enhancers	NHEK	skin
20	chr4:166304800-166306200	Flanking Active TSS	Fetal Brain Female	brain
21	chr4:166304800-166306600	Enhancers	Fetal Stomach	stomach
22	chr4:166305000-166305600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:166305000-166305600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:166305000-166305800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:166305000-166305800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:166305000-166305800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:166305000-166306000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:166305000-166306200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:166305000-166306200	Enhancers	HMEC	breast
30	chr4:166305000-166306400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:166305000-166306800	Enhancers	NHDF-Ad	bronchial
32	chr4:166305200-166305600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr4:166305200-166305800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:166305200-166314800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:166305200-166319400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:166305400-166305600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:166305400-166305600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:166305400-166305600	Flanking Active TSS	Fetal Brain Male	brain
39	chr4:166305400-166305800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:166305400-166305800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:166305400-166305800	Enhancers	Esophagus	oesophagus
42	chr4:166305400-166305800	Enhancers	Fetal Muscle Trunk	muscle
43	chr4:166305400-166307200	Genic enhancers	HepG2	liver
44	chr4:166305400-166309000	Weak transcription	Aorta	Aorta

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