Variant report

Variant	rs1256110
Chromosome Location	chr14:64816857-64816858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10131195	0.82[EUR][1000 genomes]
rs10146204	0.91[CEU][hapmap]
rs12434608	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1256093	0.87[CEU][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1256095	0.91[CEU][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1256097	0.97[EUR][1000 genomes]
rs1256099	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1256100	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1256101	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1256102	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256108	0.98[EUR][1000 genomes]
rs1256109	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1256111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256113	0.89[EUR][1000 genomes]
rs1262246	0.98[EUR][1000 genomes]
rs1270057	0.97[EUR][1000 genomes]
rs12889097	0.85[EUR][1000 genomes]
rs12894546	0.89[EUR][1000 genomes]
rs28570137	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2987958	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2987960	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2987961	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2987963	0.82[EUR][1000 genomes]
rs2987964	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2987969	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2987970	0.83[EUR][1000 genomes]
rs2987971	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2987974	0.80[EUR][1000 genomes]
rs2987982	0.83[EUR][1000 genomes]
rs3020438	0.80[EUR][1000 genomes]
rs3020439	0.82[EUR][1000 genomes]
rs3020441	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35020344	0.87[CEU][hapmap];0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs36016358	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4243628	0.84[EUR][1000 genomes]
rs4902274	0.80[EUR][1000 genomes]
rs8003153	0.83[EUR][1000 genomes]
rs8007217	0.82[EUR][1000 genomes]
rs8018032	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv84862	chr14:64813942-64818537	Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1256110	MTHFD1	cis	Thyroid	GTEx
rs1256110	SYNE2	Cis_1M	lymphoblastoid	RTeQTL
rs1256110	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL
rs1256110	ESR2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64806200-64819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:64807600-64827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:64813200-64822200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:64816400-64853400	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links