Variant report

Variant	rs4902274
Chromosome Location	chr14:64819757-64819758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64804739..64807638-chr14:64817881..64820588,2	MCF-7	breast:
2	chr14:64813513..64815077-chr14:64817332..64820042,2	K562	blood:

Variant related genes	Relation type
ENSG00000214770	Chromatin interaction
ENSG00000140009	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10131195	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145700	0.82[EUR][1000 genomes]
rs10146204	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158538	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12100642	0.80[EUR][1000 genomes]
rs1256111	0.80[EUR][1000 genomes]
rs28570137	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2983733	0.82[EUR][1000 genomes]
rs2983736	0.81[EUR][1000 genomes]
rs2983738	0.81[EUR][1000 genomes]
rs2983739	0.82[EUR][1000 genomes]
rs2983741	0.85[EUR][1000 genomes]
rs2983742	0.87[EUR][1000 genomes]
rs2983746	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2983747	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2987958	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987959	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2987960	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987961	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987962	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2987963	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987964	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2987965	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987969	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987970	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2987971	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987972	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987973	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2987974	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2987977	0.89[EUR][1000 genomes]
rs2987979	0.81[EUR][1000 genomes]
rs2987982	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987984	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3020436	0.81[EUR][1000 genomes]
rs3020438	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020439	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020441	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020442	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57087457	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57351847	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151163	0.85[EUR][1000 genomes]
rs8003153	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007217	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8010584	0.84[EUR][1000 genomes]
rs8018032	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323449	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4902274	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL
rs4902274	MTHFD1	cis	Artery Tibial	GTEx
rs4902274	ESR2	Cis_1M	lymphoblastoid	RTeQTL
rs4902274	SYNE2	Cis_1M	lymphoblastoid	RTeQTL
rs4902274	MTHFD1	cis	Adipose Subcutaneous	GTEx
rs4902274	MTHFD1	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64807600-64827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:64813200-64822200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:64816400-64853400	Weak transcription	Primary B cells from cord blood	blood
4	chr14:64818800-64822000	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:64819400-64822000	Weak transcription	Primary B cells from peripheral blood	blood

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