Variant report

Variant	rs16932286
Chromosome Location	chr8:66556865-66556866
allele	A/G
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	POLR2A	chr8:66556448-66557201	SK-N-MC	brain:	n/a	n/a
2	TEAD4	chr8:66555887-66557150	K562	blood:	n/a	n/a
3	POLR2A	chr8:66555772-66557688	HepG2	liver:	n/a	n/a
4	NFYA	chr8:66556722-66557020	GM12878	blood:	n/a	chr8:66556939-66556952
5	PBX3	chr8:66556792-66557046	GM12878	blood:	n/a	chr8:66556941-66556950
6	POLR2A	chr8:66555886-66557661	K562	blood:	n/a	n/a
7	POLR2A	chr8:66556626-66557171	GM12891	blood:	n/a	n/a
8	RUNX3	chr8:66556838-66557739	GM12878	blood:	n/a	n/a
9	CEBPD	chr8:66556743-66557101	HepG2	liver:	n/a	n/a
10	ZNF143	chr8:66556731-66557542	H1-hESC	embryonic stem cell:	n/a	chr8:66557477-66557495 chr8:66557363-66557373
11	MAX	chr8:66556168-66557594	Hela-S3	cervix:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
12	ZNF143	chr8:66556574-66557577	Hela-S3	cervix:	n/a	chr8:66557477-66557495 chr8:66557363-66557373
13	FOXM1	chr8:66556865-66557859	GM12878	blood:	n/a	n/a
14	RFX5	chr8:66556693-66557478	GM12878	blood:	n/a	n/a
15	HEY1	chr8:66556538-66557235	K562	blood:	n/a	chr8:66557000-66557015 chr8:66557184-66557199
16	POLR2A	chr8:66556462-66557642	H1-neurons	neurons:	n/a	n/a
17	RFX5	chr8:66556385-66557664	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:66556432-66557705	HUVEC	blood vessel:	n/a	n/a
19	REST	chr8:66556020-66557897	H1-neurons	neurons:	n/a	chr8:66556783-66556796 chr8:66556824-66556834
20	POLR2A	chr8:66556794-66557250	GM12892	blood:	n/a	n/a
21	NFE2	chr8:66556788-66556920	GM12878	blood:	n/a	n/a
22	ARID3A	chr8:66555657-66557626	K562	blood:	n/a	n/a
23	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
24	E2F6	chr8:66555743-66557566	K562	blood:	n/a	chr8:66556797-66556806 chr8:66556222-66556231 chr8:66557364-66557373 chr8:66556395-66556404
25	TCF12	chr8:66556237-66557716	A549	lung:	n/a	chr8:66557314-66557324
26	IRF1	chr8:66555689-66557675	K562	blood:	n/a	chr8:66557542-66557554 chr8:66556222-66556231
27	POLR2A	chr8:66555705-66557694	K562	blood:	n/a	n/a
28	POLR2A	chr8:66556677-66557650	IMR90	lung:	n/a	n/a
29	POLR2A	chr8:66556559-66557598	A549	lung:	n/a	n/a
30	RELA	chr8:66556436-66557578	GM15510	blood:	n/a	n/a
31	POLR2A	chr8:66556036-66557659	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:66555765-66557751	PBDE	blood:	n/a	n/a
33	POLR2A	chr8:66556191-66557746	HUVEC	blood vessel:	n/a	n/a
34	PAX5	chr8:66556619-66557638	GM12878	blood:	n/a	chr8:66556797-66556806
35	SIN3AK20	chr8:66556019-66557164	K562	blood:	n/a	n/a
36	STAT1	chr8:66556541-66557434	GM12878	blood:	n/a	n/a
37	SIN3AK20	chr8:66556379-66557774	PANC-1	pancreas:	n/a	n/a
38	PBX3	chr8:66556650-66557627	A549	lung:	n/a	chr8:66556941-66556950
39	FOXP2	chr8:66556483-66557260	SK-N-MC	brain:	n/a	n/a
40	BHLHE40	chr8:66556151-66557702	HepG2	liver:	n/a	chr8:66556411-66556420 chr8:66556412-66556421 chr8:66556411-66556420
41	POLR2A	chr8:66555821-66557647	K562	blood:	n/a	n/a
42	TAF1	chr8:66556564-66557125	PFSK-1	brain:	n/a	n/a
43	PBX3	chr8:66556651-66557104	GM12878	blood:	n/a	chr8:66556941-66556950
44	RCOR1	chr8:66556569-66557721	HepG2	liver:	n/a	n/a
45	POLR2A	chr8:66556612-66557680	GM19099	blood:	n/a	n/a
46	HEY1	chr8:66556377-66557687	K562	blood:	n/a	chr8:66556411-66556420 chr8:66557000-66557015 chr8:66557184-66557199
47	POLR2A	chr8:66556556-66557720	GM12892	blood:	n/a	n/a
48	MYC	chr8:66556154-66557081	MCF10A-Er-Src	breast:	n/a	chr8:66556410-66556421 chr8:66556410-66556421 chr8:66556411-66556420 chr8:66556411-66556421
49	CHD2	chr8:66556715-66557011	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:66556484-66557272	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:66556843-66556893	MCF-7	breast:	n/a
2	chr8:66556843-66556893	ovcar-3	ovarian:	n/a
3	chr8:66556843-66556893	HEEpiC	esophagus:	n/a
4	chr8:66556843-66556893	HNPCEpiC	eye:	n/a
5	chr8:66556843-66556893	NB4	blood:	n/a
6	chr8:66556843-66556893	HIPEpiC	eye:	n/a
7	chr8:66556843-66556893	T-47D	breast:	n/a
8	chr8:66556843-66556893	AG04449	skin:	fetal
9	chr8:66556843-66556893	HCPEpiC	choroid plexus:	n/a
10	chr8:66556843-66556893	HEK293	kidney:	embryo
11	chr8:66556843-66556893	HL-60	blood:	n/a
12	chr8:66556843-66556893	PFSK-1	brain:	n/a
13	chr8:66556843-66556893	GM06990	blood:	n/a
14	chr8:66556843-66556893	SAEC	small airway:	n/a
15	chr8:66556843-66556893	NT2-D1	testis:	n/a
16	chr8:66556843-66556893	BE2_C	brain:	n/a
17	chr8:66556843-66556893	Jurkat	blood:	n/a
18	chr8:66556843-66556893	MCF10A-Er-Src	breast:	n/a
19	chr8:66556843-66556893	HMEC	breast:	n/a
20	chr8:66556843-66556893	HCM	heart:	n/a
21	chr8:66556843-66556893	HRCEpiC	kidney:	n/a
22	chr8:66556843-66556893	AG04450	lung:	fetal
23	chr8:66556843-66556893	HUVEC	blood vessel:	n/a
24	chr8:66556843-66556893	HepG2	liver:	n/a
25	chr8:66556843-66556893	AG09319	gingival:	n/a
26	chr8:66556843-66556893	BJ	skin:	n/a
27	chr8:66556843-66556893	AoSMC	blood vessel:	n/a
28	chr8:66556843-66556893	PANC-1	pancreas:	n/a
29	chr8:66556843-66556893	HRPEpiC	eye:	n/a
30	chr8:66556843-66556893	SK-N-SH	brain:	n/a
31	chr8:66556843-66556893	PrEC	prostate:	n/a
32	chr8:66556843-66556893	Hela-S3	cervix:	n/a
33	chr8:66556843-66556893	GM12892	blood:	n/a
34	chr8:66556843-66556893	IMR90	lung:	fetal
35	chr8:66556843-66556893	SK-N-MC	brain:	n/a
36	chr8:66556843-66556893	SK-N-SH_RA	brain:	n/a
37	chr8:66556843-66556893	HRE	kidney:	n/a
38	chr8:66556843-66556893	NH-A	brain:	n/a
39	chr8:66556843-66556893	HPAEpiC	pulmonary alveolar:	n/a
40	chr8:66556843-66556893	GM12891	blood:	n/a
41	chr8:66556843-66556893	H1-hESC	embryonic stem cell:	embryo
42	chr8:66556843-66556893	HAEpiC	amniotic membrane:	n/a
43	chr8:66556843-66556893	Caco-2	colon:	n/a
44	chr8:66556843-66556893	SKMC	muscle:	n/a
45	chr8:66556843-66556893	AG09309	skin:	n/a
46	chr8:66556843-66556893	HCT-116	colon:	n/a
47	chr8:66556843-66556893	GM19239	blood:	n/a
48	chr8:66556843-66556893	ProgFib	skin:	n/a
49	chr8:66556843-66556893	RPTEC	kidney:	n/a
50	chr8:66556843-66556893	AG10803	skin:	n/a

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

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

Extended variants
information (count: 70 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10089708	0.86[AFR][1000 genomes]
rs1022253	1.00[ASN][1000 genomes]
rs1022254	1.00[ASN][1000 genomes]
rs10504389	0.87[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs11995337	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16932294	0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17303905	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs17304516	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs17394860	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17394924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.97[ASN][1000 genomes]
rs2175810	1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2357478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35524385	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs41343545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs4497004	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs57220512	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57962817	1.00[ASN][1000 genomes]
rs58398396	1.00[ASN][1000 genomes]
rs58594670	0.97[ASN][1000 genomes]
rs60824178	0.97[ASN][1000 genomes]
rs61316312	0.83[EUR][1000 genomes]
rs66773449	0.97[ASN][1000 genomes]
rs66802499	0.83[EUR][1000 genomes]
rs66817670	1.00[ASN][1000 genomes]
rs66820398	1.00[ASN][1000 genomes]
rs66824691	1.00[ASN][1000 genomes]
rs66831149	0.83[EUR][1000 genomes]
rs66850618	0.89[EUR][1000 genomes]
rs66851666	0.89[EUR][1000 genomes]
rs66901832	1.00[ASN][1000 genomes]
rs66908793	0.97[ASN][1000 genomes]
rs67102418	0.83[EUR][1000 genomes]
rs67125822	1.00[ASN][1000 genomes]
rs67202221	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67362541	1.00[ASN][1000 genomes]
rs67433957	1.00[ASN][1000 genomes]
rs67445866	1.00[ASN][1000 genomes]
rs67514002	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67578481	1.00[ASN][1000 genomes]
rs67669255	1.00[ASN][1000 genomes]
rs67679220	0.83[EUR][1000 genomes]
rs67686346	0.84[AFR][1000 genomes]
rs67692803	1.00[ASN][1000 genomes]
rs67827113	1.00[ASN][1000 genomes]
rs68075342	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68077070	0.89[EUR][1000 genomes]
rs68087267	1.00[ASN][1000 genomes]
rs68167505	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6991669	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs6991731	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7002171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002494	0.98[ASN][1000 genomes]
rs7002953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664797	0.83[EUR][1000 genomes]
rs72666512	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666522	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666525	1.00[ASN][1000 genomes]
rs72666526	0.83[EUR][1000 genomes]
rs73239047	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239052	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73239095	1.00[ASN][1000 genomes]
rs73240726	0.83[EUR][1000 genomes]
rs73240732	1.00[ASN][1000 genomes]
rs73240751	0.83[EUR][1000 genomes]
rs7463538	1.00[ASN][1000 genomes]
rs7465049	0.82[EUR][1000 genomes]
rs7825615	1.00[ASN][1000 genomes]
rs7829562	0.87[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs7842162	1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16932286	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs16932286	MTFR1	cis	cerebellum	SCAN
rs16932286	MTFR1	cis	Muscle Skeletal	GTEx
rs16932286	PTTG3P	cis	cerebellum	SCAN
rs16932286	MTFR1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66555400-66558200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:66555400-66558600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:66555600-66557800	Active TSS	Colonic Mucosa	Colon
4	chr8:66555600-66557800	Active TSS	Fetal Intestine Large	intestine
5	chr8:66555600-66557800	Active TSS	Fetal Intestine Small	intestine
6	chr8:66555600-66557800	Active TSS	Psoas Muscle	Psoas
7	chr8:66555600-66558000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:66555600-66558000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:66555600-66558000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:66555600-66558000	Active TSS	Colon Smooth Muscle	Colon
11	chr8:66555600-66558000	Active TSS	Fetal Lung	lung
12	chr8:66555600-66558200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:66555800-66557200	Active TSS	Right Atrium	heart
14	chr8:66555800-66557200	Bivalent/Poised TSS	HepG2	liver
15	chr8:66555800-66557600	Active TSS	Fetal Heart	heart
16	chr8:66555800-66557600	Active TSS	Fetal Muscle Trunk	muscle
17	chr8:66555800-66557800	Active TSS	Pancreas	Pancrea
18	chr8:66555800-66558000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:66555800-66558000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:66555800-66558000	Active TSS	Aorta	Aorta
21	chr8:66555800-66558200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:66555800-66558200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:66555800-66558200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:66555800-66558200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:66555800-66558200	Active TSS	Right Ventricle	heart
26	chr8:66555800-66558200	Active TSS	NHDF-Ad	bronchial
27	chr8:66556000-66557600	Active TSS	Brain Cingulate Gyrus	brain
28	chr8:66556000-66557600	Active TSS	Fetal Brain Male	brain
29	chr8:66556000-66557800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:66556000-66557800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:66556000-66557800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:66556000-66557800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:66556000-66557800	Active TSS	Esophagus	oesophagus
34	chr8:66556000-66557800	Active TSS	Left Ventricle	heart
35	chr8:66556000-66557800	Active TSS	Ovary	ovary
36	chr8:66556000-66557800	Active TSS	Stomach Mucosa	stomach
37	chr8:66556000-66558000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:66556000-66558000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:66556000-66558000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:66556000-66558200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:66556000-66558200	Active TSS	A549	lung
42	chr8:66556000-66558200	Active TSS	HSMM	muscle
43	chr8:66556000-66558600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:66556200-66557600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr8:66556200-66557600	Active TSS	Fetal Muscle Leg	muscle
46	chr8:66556200-66557800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:66556200-66557800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:66556200-66557800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:66556200-66557800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:66556200-66557800	Active TSS	Small Intestine	intestine

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