Variant report

Variant	rs57220512
Chromosome Location	chr8:66561488-66561489
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66560991..66563000-chr8:66576545..66578819,2	MCF-7	breast:
2	chr8:66557149..66559790-chr8:66561450..66563071,2	K562	blood:
3	chr8:66556070..66558331-chr8:66560189..66563116,2	MCF-7	breast:
4	chr8:66552932..66555499-chr8:66560225..66562649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066855	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1022253	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1022254	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10504389	0.89[EUR][1000 genomes]
rs11995337	0.90[ASN][1000 genomes]
rs16932286	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17303905	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17304516	0.83[EUR][1000 genomes]
rs17394860	0.90[ASN][1000 genomes]
rs17394924	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2357478	0.90[ASN][1000 genomes]
rs35524385	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs41343545	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4497004	0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs56698878	0.89[AFR][1000 genomes]
rs57962817	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58398396	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58594670	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs60824178	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs61316312	0.83[EUR][1000 genomes]
rs66773449	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs66802499	0.83[EUR][1000 genomes]
rs66817670	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs66820398	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs66824691	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs66831149	0.83[EUR][1000 genomes]
rs66850618	0.89[EUR][1000 genomes]
rs66851666	0.89[EUR][1000 genomes]
rs66901832	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs66908793	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs66987979	0.81[AFR][1000 genomes]
rs67102418	0.83[EUR][1000 genomes]
rs67125822	0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67202221	0.90[ASN][1000 genomes]
rs67362541	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67433957	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67445866	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67514002	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67578481	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67669255	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67679220	0.83[EUR][1000 genomes]
rs67692803	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67827113	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs68075342	0.90[ASN][1000 genomes]
rs68077070	0.89[EUR][1000 genomes]
rs68087267	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs68167505	0.90[ASN][1000 genomes]
rs6991669	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7002171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7002494	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7002953	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664797	0.83[EUR][1000 genomes]
rs72666512	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72666522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72666525	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72666526	0.83[EUR][1000 genomes]
rs73239047	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73239052	0.90[ASN][1000 genomes]
rs73239095	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73240726	0.83[EUR][1000 genomes]
rs73240732	0.90[ASN][1000 genomes]
rs73240751	0.83[EUR][1000 genomes]
rs7463538	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7465049	0.82[EUR][1000 genomes]
rs7825615	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7829562	0.83[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs57220512	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs57220512	MTFR1	cis	Muscle Skeletal	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66557800-66564400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:66558000-66564200	Weak transcription	Psoas Muscle	Psoas
3	chr8:66558000-66565000	Weak transcription	Pancreas	Pancrea
4	chr8:66558000-66565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:66558000-66567000	Weak transcription	Gastric	stomach
6	chr8:66558000-66567200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:66558000-66567400	Weak transcription	Ovary	ovary
8	chr8:66558000-66568800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:66558000-66569400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:66558000-66569600	Weak transcription	Esophagus	oesophagus
11	chr8:66558000-66571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:66558000-66571000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:66558000-66571000	Weak transcription	Fetal Lung	lung
14	chr8:66558000-66571000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:66558000-66571000	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:66558000-66571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:66558000-66571000	Weak transcription	Thymus	Thymus
18	chr8:66558000-66571000	Weak transcription	HSMMtube	muscle
19	chr8:66558000-66571000	Weak transcription	NH-A	brain
20	chr8:66558000-66571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:66558000-66571200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:66558000-66571600	Weak transcription	Lung	lung
23	chr8:66558000-66582400	Weak transcription	Placenta	Placenta
24	chr8:66558000-66583400	Weak transcription	Aorta	Aorta
25	chr8:66558000-66585200	Weak transcription	Left Ventricle	heart
26	chr8:66558200-66562200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:66558200-66569600	Weak transcription	Fetal Stomach	stomach
28	chr8:66558200-66570600	Weak transcription	Fetal Intestine Large	intestine
29	chr8:66558200-66570800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:66558200-66570800	Weak transcription	Primary B cells from cord blood	blood
31	chr8:66558200-66570800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:66558200-66571000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:66558200-66571000	Weak transcription	HSMM	muscle
34	chr8:66558200-66571200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:66558200-66573600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:66558400-66562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:66558400-66562600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:66558400-66567200	Weak transcription	Stomach Mucosa	stomach
39	chr8:66558400-66567600	Weak transcription	NHDF-Ad	bronchial
40	chr8:66558400-66568800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:66558400-66569400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:66558400-66569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:66558400-66570000	Weak transcription	Osteobl	bone
44	chr8:66558400-66571000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:66558400-66606800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:66558600-66564000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:66558600-66565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:66558600-66566800	Weak transcription	A549	lung
49	chr8:66558600-66567000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:66558600-66569000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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