Variant report

Variant	rs10504389
Chromosome Location	chr8:66556187-66556188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr8:66555887-66557150	K562	blood:	n/a	n/a
2	POLR2A	chr8:66555772-66557688	HepG2	liver:	n/a	n/a
3	ELF1	chr8:66555888-66556408	A549	lung:	n/a	n/a
4	POLR2A	chr8:66555886-66557661	K562	blood:	n/a	n/a
5	MAX	chr8:66556168-66557594	Hela-S3	cervix:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
6	REST	chr8:66556020-66557897	H1-neurons	neurons:	n/a	chr8:66556783-66556796 chr8:66556824-66556834
7	TBL1XR1	chr8:66555781-66556214	K562	blood:	n/a	n/a
8	ARID3A	chr8:66555657-66557626	K562	blood:	n/a	n/a
9	SP1	chr8:66556026-66557618	A549	lung:	n/a	chr8:66557320-66557332 chr8:66556925-66556934 chr8:66557320-66557332 chr8:66556926-66556935 chr8:66556221-66556242 chr8:66556926-66556935 chr8:66557322-66557331 chr8:66557315-66557329
10	E2F6	chr8:66555743-66557566	K562	blood:	n/a	chr8:66556797-66556806 chr8:66556222-66556231 chr8:66557364-66557373 chr8:66556395-66556404
11	IRF1	chr8:66555689-66557675	K562	blood:	n/a	chr8:66557542-66557554 chr8:66556222-66556231
12	POLR2A	chr8:66555705-66557694	K562	blood:	n/a	n/a
13	POLR2A	chr8:66556036-66557659	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:66555765-66557751	PBDE	blood:	n/a	n/a
15	SIN3AK20	chr8:66556019-66557164	K562	blood:	n/a	n/a
16	BHLHE40	chr8:66556151-66557702	HepG2	liver:	n/a	chr8:66556411-66556420 chr8:66556412-66556421 chr8:66556411-66556420
17	POLR2A	chr8:66555821-66557647	K562	blood:	n/a	n/a
18	GATA2	chr8:66555810-66556274	SH-SY5Y	brain:	n/a	n/a
19	MYC	chr8:66556154-66557081	MCF10A-Er-Src	breast:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
20	MAX	chr8:66555742-66557603	K562	blood:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
21	CTCF	chr8:66555564-66557953	A549	lung:	n/a	chr8:66557373-66557386 chr8:66557371-66557387 chr8:66556142-66556151 chr8:66557370-66557388
22	HEY1	chr8:66555976-66556281	K562	blood:	n/a	n/a
23	MAX	chr8:66556070-66557629	ECC-1	luminal epithelium:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
24	ELF1	chr8:66555777-66556446	A549	lung:	n/a	n/a
25	TBP	chr8:66556082-66557638	HepG2	liver:	n/a	chr8:66556780-66556791
26	POLR2A	chr8:66555888-66557526	K562	blood:	n/a	n/a
27	MXI1	chr8:66556017-66557509	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:66555359-66557962	K562	blood:	n/a	n/a
29	E2F6	chr8:66556040-66556303	K562	blood:	n/a	chr8:66556222-66556231
30	MAX	chr8:66555901-66557802	A549	lung:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
31	NFYA	chr8:66556004-66556364	Hela-S3	cervix:	n/a	chr8:66556222-66556232 chr8:66556220-66556235 chr8:66556220-66556235 chr8:66556220-66556234
32	MXI1	chr8:66555851-66557674	HepG2	liver:	n/a	n/a
33	GTF2B	chr8:66556042-66556283	K562	blood:	n/a	n/a
34	MAX	chr8:66556051-66557531	A549	lung:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
35	CEBPB	chr8:66556167-66556294	H1-hESC	embryonic stem cell:	n/a	chr8:66556223-66556231
36	MAX	chr8:66556070-66557600	NB4	blood:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
37	TEAD4	chr8:66555932-66557218	K562	blood:	n/a	n/a
38	YY1	chr8:66556007-66556282	K562	blood:	n/a	n/a
39	BHLHE40	chr8:66555767-66557592	K562	blood:	n/a	chr8:66556411-66556420 chr8:66556412-66556421 chr8:66556411-66556420
40	MAZ	chr8:66555733-66557968	K562	blood:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
41	JUND	chr8:66555381-66557678	K562	blood:	n/a	chr8:66556224-66556233 chr8:66556939-66556948
42	MAX	chr8:66555947-66557787	HepG2	liver:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
43	ZC3H11A	chr8:66555737-66556292	K562	blood:	n/a	n/a
44	RCOR1	chr8:66555885-66557946	K562	blood:	n/a	n/a
45	TBL1XR1	chr8:66555456-66556189	K562	blood:	n/a	n/a
46	CBX3	chr8:66555642-66557679	K562	blood:	n/a	n/a
47	EP300	chr8:66555650-66557731	K562	blood:	n/a	chr8:66557475-66557491 chr8:66557367-66557376 chr8:66557364-66557373
48	PML	chr8:66555816-66557480	K562	blood:	n/a	n/a
49	MAX	chr8:66556127-66557449	H1-hESC	embryonic stem cell:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
50	KAP1	chr8:66555994-66557181	U2OS	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:66556147-66556197	Hela-S3	cervix:	n/a
2	chr8:66556147-66556197	SKMC	muscle:	n/a
3	chr8:66556147-66556197	HUVEC	blood vessel:	n/a
4	chr8:66556147-66556197	PrEC	prostate:	n/a
5	chr8:66556147-66556197	HMEC	breast:	n/a
6	chr8:66556147-66556197	AG09309	skin:	n/a
7	chr8:66556147-66556197	HCPEpiC	choroid plexus:	n/a
8	chr8:66556147-66556197	PFSK-1	brain:	n/a
9	chr8:66556147-66556197	AG10803	skin:	n/a
10	chr8:66556147-66556197	HCT-116	colon:	n/a
11	chr8:66556147-66556197	BE2_C	brain:	n/a
12	chr8:66556147-66556197	NH-A	brain:	n/a
13	chr8:66556147-66556197	HRPEpiC	eye:	n/a
14	chr8:66556147-66556197	A549	lung:	n/a
15	chr8:66556147-66556197	PANC-1	pancreas:	n/a
16	chr8:66556147-66556197	ProgFib	skin:	n/a
17	chr8:66556147-66556197	HAEpiC	amniotic membrane:	n/a
18	chr8:66556147-66556197	HRCEpiC	kidney:	n/a
19	chr8:66556147-66556197	HPAEpiC	pulmonary alveolar:	n/a
20	chr8:66556147-66556197	AG04449	skin:	fetal
21	chr8:66556147-66556197	ovcar-3	ovarian:	n/a
22	chr8:66556147-66556197	AoSMC	blood vessel:	n/a
23	chr8:66556147-66556197	SAEC	small airway:	n/a
24	chr8:66556147-66556197	HCM	heart:	n/a
25	chr8:66556147-66556197	T-47D	breast:	n/a
26	chr8:66556147-66556197	Jurkat	blood:	n/a
27	chr8:66556147-66556197	IMR90	lung:	fetal
28	chr8:66556147-66556197	MCF-7	breast:	n/a
29	chr8:66556147-66556197	AG04450	lung:	fetal
30	chr8:66556147-66556197	HEK293	kidney:	embryo
31	chr8:66556147-66556197	SK-N-MC	brain:	n/a
32	chr8:66556147-66556197	HRE	kidney:	n/a
33	chr8:66556147-66556197	NHDF-neo	bronchial:	n/a
34	chr8:66556147-66556197	RPTEC	kidney:	n/a
35	chr8:66556147-66556197	GM19239	blood:	n/a
36	chr8:66556147-66556197	SK-N-SH	brain:	n/a
37	chr8:66556147-66556197	GM06990	blood:	n/a
38	chr8:66556147-66556197	LNCaP	prostate:	n/a
39	chr8:66556147-66556197	MCF10A-Er-Src	breast:	n/a
40	chr8:66556147-66556197	HCF	heart:	n/a
41	chr8:66556147-66556197	GM12878	blood:	n/a
42	chr8:66556147-66556197	BJ	skin:	n/a
43	chr8:66556147-66556197	GM12892	blood:	n/a
44	chr8:66556147-66556197	NT2-D1	testis:	n/a
45	chr8:66556147-66556197	H1-hESC	embryonic stem cell:	embryo
46	chr8:66556147-66556197	HEEpiC	esophagus:	n/a
47	chr8:66556147-66556197	NHBE	bronchial:	n/a
48	chr8:66556147-66556197	HL-60	blood:	n/a
49	chr8:66556147-66556197	GM12891	blood:	n/a
50	chr8:66556147-66556197	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66540570..66542467-chr8:66555055..66556755,2	MCF-7	breast:
2	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
3	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:
4	chr8:66555236..66558809-chr8:66619620..66621771,3	K562	blood:
5	chr8:66555940..66558809-chr8:66619620..66621771,2	K562	blood:

Variant related genes	Relation type
MTFR1	TF binding region
MTFR1	CpG island
ENSG00000104442	Chromatin interaction
ENSG00000066855	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs16932286	0.87[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs16932294	0.83[EUR][1000 genomes]
rs17304516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57220512	0.89[EUR][1000 genomes]
rs61316312	0.85[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851666	1.00[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	0.95[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	0.87[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs7002953	0.87[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs7008671	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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10504389	ENSG00000066855	cis	multi-tissue	Pritchard
rs10504389	MTFR1	cis	multi-tissue	Pritchard
rs10504389	MTFR1	cis	Muscle Skeletal	GTEx
rs10504389	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs10504389	PTTG3P	cis	cerebellum	SCAN
rs10504389	MTFR1	cis	cerebellum	SCAN
rs10504389	MTFR1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66555400-66556200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr8:66555400-66556400	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr8:66555400-66556800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:66555400-66558200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:66555400-66558600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:66555600-66556200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr8:66555600-66556200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr8:66555600-66556200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:66555600-66556200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:66555600-66556200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:66555600-66556200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:66555600-66556200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:66555600-66556200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:66555600-66556400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:66555600-66556400	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr8:66555600-66556400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:66555600-66556400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr8:66555600-66556600	Flanking Active TSS	Placenta	Placenta
19	chr8:66555600-66556600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr8:66555600-66556600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:66555600-66556600	Flanking Active TSS	HUVEC	blood vessel
22	chr8:66555600-66556600	Flanking Active TSS	K562	blood
23	chr8:66555600-66556800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:66555600-66556800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:66555600-66556800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr8:66555600-66556800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr8:66555600-66556800	Flanking Active TSS	Hela-S3	cervix
28	chr8:66555600-66556800	Flanking Active TSS	HMEC	breast
29	chr8:66555600-66556800	Flanking Active TSS	NHEK	skin
30	chr8:66555600-66556800	Flanking Active TSS	Osteobl	bone
31	chr8:66555600-66557800	Active TSS	Colonic Mucosa	Colon
32	chr8:66555600-66557800	Active TSS	Fetal Intestine Large	intestine
33	chr8:66555600-66557800	Active TSS	Fetal Intestine Small	intestine
34	chr8:66555600-66557800	Active TSS	Psoas Muscle	Psoas
35	chr8:66555600-66558000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr8:66555600-66558000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:66555600-66558000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:66555600-66558000	Active TSS	Colon Smooth Muscle	Colon
39	chr8:66555600-66558000	Active TSS	Fetal Lung	lung
40	chr8:66555600-66558200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:66555800-66556200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:66555800-66556200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:66555800-66556200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:66555800-66556200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr8:66555800-66556200	Flanking Active TSS	Fetal Brain Female	brain
46	chr8:66555800-66556200	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr8:66555800-66556200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr8:66555800-66556200	Enhancers	Gastric	stomach
49	chr8:66555800-66556200	Flanking Active TSS	GM12878-XiMat	blood
50	chr8:66555800-66556200	Flanking Active TSS	HSMMtube	muscle

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