Variant report

Variant	rs72666522
Chromosome Location	chr8:66569731-66569732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66569613..66571135-chr8:66574337..66576587,2	K562	blood:
2	chr8:66555538..66559182-chr8:66566895..66570032,4	K562	blood:

Variant related genes	Relation type
ENSG00000066855	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1022253	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1022254	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10504389	0.83[EUR][1000 genomes]
rs11995337	1.00[ASN][1000 genomes]
rs16932286	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17303905	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17304516	0.89[EUR][1000 genomes]
rs17394860	1.00[ASN][1000 genomes]
rs17394924	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2357478	1.00[ASN][1000 genomes]
rs35524385	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41343545	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4497004	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56698878	0.89[AFR][1000 genomes]
rs57220512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57962817	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58398396	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58594670	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs60824178	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs66773449	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs66802499	0.89[EUR][1000 genomes]
rs66817670	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66820398	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66824691	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66831149	0.89[EUR][1000 genomes]
rs66850618	0.83[EUR][1000 genomes]
rs66851666	0.83[EUR][1000 genomes]
rs66901832	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66908793	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs66987979	0.81[AFR][1000 genomes]
rs67102418	0.89[EUR][1000 genomes]
rs67125822	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67202221	1.00[ASN][1000 genomes]
rs67362541	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67433957	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67445866	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67514002	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67578481	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67669255	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67679220	0.89[EUR][1000 genomes]
rs67692803	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67724994	0.82[EUR][1000 genomes]
rs67827113	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68075342	1.00[ASN][1000 genomes]
rs68077070	0.83[EUR][1000 genomes]
rs68087267	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68167505	1.00[ASN][1000 genomes]
rs6986048	0.83[EUR][1000 genomes]
rs6991669	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7002171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002494	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7002953	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666512	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666525	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72666526	0.89[EUR][1000 genomes]
rs73239047	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239052	1.00[ASN][1000 genomes]
rs73239095	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73240726	0.89[EUR][1000 genomes]
rs73240732	1.00[ASN][1000 genomes]
rs73240751	0.89[EUR][1000 genomes]
rs7463538	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7465049	0.88[EUR][1000 genomes]
rs7825615	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7829562	0.89[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72666522	MTFR1	cis	Muscle Skeletal	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66558000-66571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:66558000-66571000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:66558000-66571000	Weak transcription	Fetal Lung	lung
4	chr8:66558000-66571000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:66558000-66571000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:66558000-66571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:66558000-66571000	Weak transcription	Thymus	Thymus
8	chr8:66558000-66571000	Weak transcription	HSMMtube	muscle
9	chr8:66558000-66571000	Weak transcription	NH-A	brain
10	chr8:66558000-66571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:66558000-66571200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:66558000-66571600	Weak transcription	Lung	lung
13	chr8:66558000-66582400	Weak transcription	Placenta	Placenta
14	chr8:66558000-66583400	Weak transcription	Aorta	Aorta
15	chr8:66558000-66585200	Weak transcription	Left Ventricle	heart
16	chr8:66558200-66570600	Weak transcription	Fetal Intestine Large	intestine
17	chr8:66558200-66570800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:66558200-66570800	Weak transcription	Primary B cells from cord blood	blood
19	chr8:66558200-66570800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:66558200-66571000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:66558200-66571000	Weak transcription	HSMM	muscle
22	chr8:66558200-66571200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:66558200-66573600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:66558400-66569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:66558400-66570000	Weak transcription	Osteobl	bone
26	chr8:66558400-66571000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:66558400-66606800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:66558600-66569800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:66558600-66570000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:66558600-66570800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:66558600-66570800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:66558600-66571000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:66558600-66571200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:66558800-66571000	Weak transcription	HMEC	breast
35	chr8:66558800-66571200	Weak transcription	HUVEC	blood vessel
36	chr8:66559000-66571200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:66559400-66570800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:66559400-66570800	Weak transcription	Hela-S3	cervix
39	chr8:66559400-66571000	Weak transcription	Primary T cells from cord blood	blood
40	chr8:66559600-66570000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:66559800-66570000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:66560000-66570400	Weak transcription	K562	blood
43	chr8:66560000-66570800	Weak transcription	HepG2	liver
44	chr8:66563200-66570800	Weak transcription	Fetal Brain Female	brain
45	chr8:66564600-66571000	Weak transcription	Psoas Muscle	Psoas
46	chr8:66566200-66571000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:66567200-66570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:66567200-66616800	Weak transcription	Gastric	stomach
49	chr8:66567400-66569800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:66567400-66571000	Weak transcription	A549	lung

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