Variant report

Variant	rs66850618
Chromosome Location	chr8:66538975-66538976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66536010..66541591-chr8:66543618..66546783,7	K562	blood:
2	chr8:66538337..66541485-chr8:66544938..66547674,5	MCF-7	breast:
3	chr8:66538964..66541698-chr8:66621567..66623438,2	K562	blood:

Variant related genes	Relation type
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10504389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932286	0.89[EUR][1000 genomes]
rs16932294	0.83[EUR][1000 genomes]
rs17304516	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57220512	0.89[EUR][1000 genomes]
rs61316312	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66802499	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66831149	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66987979	1.00[ASN][1000 genomes]
rs67102418	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67514002	0.83[EUR][1000 genomes]
rs67679220	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67686346	1.00[ASN][1000 genomes]
rs67724994	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68077070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986048	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002171	0.83[EUR][1000 genomes]
rs7002953	0.83[EUR][1000 genomes]
rs7008671	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72664797	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72666512	0.87[EUR][1000 genomes]
rs72666522	0.83[EUR][1000 genomes]
rs72666526	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239047	0.89[EUR][1000 genomes]
rs73240726	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240751	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240774	0.81[EUR][1000 genomes]
rs7465049	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822636	0.81[EUR][1000 genomes]
rs7829562	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66850618	MTFR1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
4	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:66517200-66539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
8	chr8:66520000-66545000	Weak transcription	NHEK	skin
9	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
12	chr8:66526000-66539000	Weak transcription	NHLF	lung
13	chr8:66527600-66539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:66529600-66539600	Strong transcription	Fetal Intestine Large	intestine
16	chr8:66529600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:66529600-66540200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:66529600-66540400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:66529600-66541800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:66529800-66539600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:66529800-66539600	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:66529800-66539800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:66529800-66540000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:66529800-66540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:66529800-66540000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:66529800-66540000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:66529800-66540200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:66529800-66540400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:66529800-66540600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr8:66529800-66540600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:66529800-66540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:66529800-66540600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:66529800-66541800	Strong transcription	Fetal Thymus	thymus
34	chr8:66529800-66542000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:66530000-66540600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:66530000-66540600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:66530000-66541200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:66530200-66545000	Weak transcription	Hela-S3	cervix
39	chr8:66530600-66539600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:66530600-66540600	Strong transcription	Adipose Nuclei	Adipose
41	chr8:66530600-66541400	Strong transcription	Fetal Intestine Small	intestine
42	chr8:66530800-66539600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:66530800-66540200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr8:66530800-66540200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:66531400-66539800	Strong transcription	Ovary	ovary
46	chr8:66532000-66545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:66532400-66539000	Weak transcription	HSMMtube	muscle
48	chr8:66532400-66545600	Weak transcription	Aorta	Aorta
49	chr8:66532800-66539800	Strong transcription	GM12878-XiMat	blood
50	chr8:66533600-66542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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