Variant report

Variant	rs2983746
Chromosome Location	chr14:64841696-64841697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64841399..64842966-chr14:64852700..64855296,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10131195	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10145700	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158537	0.97[ASN][1000 genomes]
rs11158538	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12100642	0.98[EUR][1000 genomes]
rs28570137	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2983733	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2983736	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2983738	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2983739	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2983741	0.92[EUR][1000 genomes]
rs2983742	0.93[EUR][1000 genomes]
rs2983747	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2987958	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2987959	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2987960	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2987961	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2987962	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2987963	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2987964	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2987969	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2987970	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2987971	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2987973	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2987974	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2987977	0.91[EUR][1000 genomes]
rs2987979	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987982	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2987984	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3020436	0.99[EUR][1000 genomes]
rs3020438	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3020439	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3020441	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3020442	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783731	0.93[ASN][1000 genomes]
rs4902274	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56029832	0.94[ASN][1000 genomes]
rs57087457	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57845486	0.97[ASN][1000 genomes]
rs7151163	0.94[EUR][1000 genomes]
rs72722376	0.97[ASN][1000 genomes]
rs8003153	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8006686	0.87[ASN][1000 genomes]
rs8007217	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8010584	0.91[EUR][1000 genomes]
rs8011839	0.87[ASN][1000 genomes]
rs8015898	0.82[ASN][1000 genomes]
rs8018032	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8020827	0.81[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2983746	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL
rs2983746	MTHFD1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64816400-64853400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:64839200-64853800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:64840800-64841800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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