Variant report

Variant	rs2433593
Chromosome Location	chr8:67351767-67351768
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	chr8:67351675..67353546-chr8:67976584..67978905,2	MCF-7	breast:
2	chr8:67344117..67347389-chr8:67347651..67352093,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121022	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs17404672	0.83[AMR][1000 genomes]
rs17405528	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2433594	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2465983	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555563	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555567	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555573	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2555576	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2555579	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2555588	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2555589	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2718989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718998	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56256543	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60331121	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62511170	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62511216	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62511222	0.84[AMR][1000 genomes]
rs62511944	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62511945	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62511947	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7014306	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7015637	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7835343	0.83[AMR][1000 genomes];0.85[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2433593	ADHFE1	cis	Artery Tibial	GTEx
rs2433593	ADHFE1	cis	Esophagus Mucosa	GTEx
rs2433593	ADHFE1	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67350800-67351800	Flanking Active TSS	Liver	Liver
2	chr8:67350800-67351800	Flanking Active TSS	Dnd41	blood
3	chr8:67350800-67352600	Active TSS	Right Atrium	heart
4	chr8:67351000-67351800	Active TSS	Brain Anterior Caudate	brain
5	chr8:67351000-67352000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:67351000-67352000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:67351000-67352000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:67351000-67352000	Active TSS	Osteobl	bone
9	chr8:67351000-67352200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:67351000-67352200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:67351200-67351800	Active TSS	Primary T cells from cord blood	blood
12	chr8:67351200-67351800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:67351200-67351800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:67351200-67351800	Active TSS	Duodenum Mucosa	Duodenum
15	chr8:67351200-67351800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr8:67351200-67351800	Active TSS	Fetal Brain Female	brain
17	chr8:67351200-67351800	Active TSS	Ovary	ovary
18	chr8:67351200-67351800	Active TSS	Rectal Smooth Muscle	rectum
19	chr8:67351200-67351800	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr8:67351200-67351800	Active TSS	A549	lung
21	chr8:67351200-67352000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:67351200-67352000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:67351200-67352000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr8:67351200-67352000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr8:67351200-67352000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr8:67351200-67352000	Active TSS	Psoas Muscle	Psoas
27	chr8:67351200-67352000	Bivalent/Poised TSS	Thymus	Thymus
28	chr8:67351200-67352200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr8:67351200-67352200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:67351200-67352200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr8:67351200-67352200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr8:67351200-67352200	Active TSS	Aorta	Aorta
33	chr8:67351200-67352200	Active TSS	Colonic Mucosa	Colon
34	chr8:67351200-67352200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:67351200-67352200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr8:67351200-67352200	Flanking Active TSS	HUVEC	blood vessel
37	chr8:67351200-67352600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr8:67351200-67352600	Active TSS	Stomach Smooth Muscle	stomach
39	chr8:67351400-67351800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr8:67351400-67351800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:67351400-67351800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:67351400-67351800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:67351400-67351800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:67351400-67351800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:67351400-67351800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:67351400-67351800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr8:67351400-67351800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:67351400-67351800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr8:67351400-67351800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:67351400-67351800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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