Variant report

Variant	rs2718989
Chromosome Location	chr8:67353425-67353426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67352250..67355147-chr8:67358287..67360742,2	K562	blood:
2	chr8:67351675..67353546-chr8:67976584..67978905,2	MCF-7	breast:
3	chr8:67347774..67350408-chr8:67352378..67355067,2	K562	blood:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17404672	0.83[AMR][1000 genomes]
rs17405528	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2433593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433594	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2433596	1.00[CHD][hapmap]
rs2465983	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2465988	0.83[YRI][hapmap]
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	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2555576	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2555579	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2555586	1.00[CHD][hapmap];0.83[YRI][hapmap]
rs2555588	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2555589	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555590	0.83[YRI][hapmap]
rs2718993	0.83[YRI][hapmap]
rs2718997	0.93[CEU][hapmap]
rs2718998	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];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	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2718989	ADHFE1	cis	Thyroid	GTEx
rs2718989	ADHFE1	cis	parietal	SCAN
rs2718989	ADHFE1	cis	multi-tissue	Pritchard
rs2718989	ADHFE1	cis	Esophagus Mucosa	GTEx
rs2718989	ADHFE1	cis	cerebellum	SCAN
rs2718989	ADHFE1	cis	Artery Tibial	GTEx
rs2718989	PRDM14	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67353600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:67352000-67353600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:67352000-67358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
5	chr8:67352200-67353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:67352200-67353600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:67352200-67353600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:67352200-67353600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:67352200-67353800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:67352200-67353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:67352200-67354200	Enhancers	Placenta	Placenta
12	chr8:67352200-67356200	Weak transcription	Liver	Liver
13	chr8:67352200-67357000	Weak transcription	Aorta	Aorta
14	chr8:67352200-67357400	Weak transcription	Brain Angular Gyrus	brain
15	chr8:67352200-67357800	Weak transcription	Left Ventricle	heart
16	chr8:67352200-67358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:67352200-67358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:67352200-67358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:67352200-67358000	Weak transcription	Pancreas	Pancrea
20	chr8:67352200-67360200	Weak transcription	Lung	lung
21	chr8:67352200-67360200	Weak transcription	Ovary	ovary
22	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
24	chr8:67352200-67361200	Weak transcription	Gastric	stomach
25	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
27	chr8:67352400-67356200	Weak transcription	Adipose Nuclei	Adipose
28	chr8:67352400-67357600	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:67352400-67357800	Weak transcription	Brain Anterior Caudate	brain
30	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
32	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:67352600-67354000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr8:67352600-67357400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:67352600-67358200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:67352800-67353600	Enhancers	NHDF-Ad	bronchial
41	chr8:67352800-67354000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:67352800-67356800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:67352800-67357400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:67352800-67358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:67353000-67353600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:67353000-67353600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:67353000-67358000	Weak transcription	HSMMtube	muscle
48	chr8:67353200-67358400	Weak transcription	Fetal Heart	heart
49	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood

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