Variant report

Variant	rs68077070
Chromosome Location	chr8:66545781-66545782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66543785..66546210-chr8:66562044..66563717,2	K562	blood:
2	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
3	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066855	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]
rs66850618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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
rs68077070	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	chr8:66544800-66546000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr8:66544800-66546000	Flanking Active TSS	Dnd41	blood
3	chr8:66545000-66545800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr8:66545000-66545800	Flanking Active TSS	HMEC	breast
5	chr8:66545000-66546000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:66545000-66546000	Flanking Active TSS	Liver	Liver
7	chr8:66545000-66546000	Enhancers	Spleen	Spleen
8	chr8:66545000-66546200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:66545000-66547600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:66545000-66547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:66545200-66545800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:66545200-66545800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:66545200-66545800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr8:66545200-66545800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:66545200-66545800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:66545200-66545800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr8:66545200-66545800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:66545200-66545800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:66545200-66545800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:66545200-66545800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:66545200-66545800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr8:66545200-66545800	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr8:66545200-66545800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:66545200-66545800	Flanking Active TSS	Fetal Brain Female	brain
25	chr8:66545200-66545800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:66545200-66545800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:66545200-66545800	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr8:66545200-66545800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr8:66545200-66545800	Active TSS	HepG2	liver
30	chr8:66545200-66545800	Flanking Active TSS	NH-A	brain
31	chr8:66545200-66545800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr8:66545200-66545800	Flanking Active TSS	NHEK	skin
33	chr8:66545200-66546000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:66545200-66546000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:66545200-66546000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr8:66545200-66546000	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr8:66545200-66546000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr8:66545200-66546000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr8:66545200-66546000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:66545200-66546000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:66545200-66546000	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr8:66545200-66546000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr8:66545200-66546000	Flanking Active TSS	Fetal Lung	lung
44	chr8:66545200-66546000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr8:66545200-66546000	Active TSS	Right Atrium	heart
46	chr8:66545200-66546000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr8:66545200-66546000	Flanking Active TSS	Hela-S3	cervix
48	chr8:66545200-66546000	Flanking Active TSS	HUVEC	blood vessel
49	chr8:66545200-66546200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:66545200-66546200	Flanking Active TSS	Adipose Nuclei	Adipose

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