Variant report

Variant	rs1256101
Chromosome Location	chr14:64830017-64830018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10131195	0.81[EUR][1000 genomes]
rs1076991	0.80[MEX][hapmap];0.80[TSI][hapmap]
rs11158538	0.80[TSI][hapmap]
rs12434608	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1256093	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1256095	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256097	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1256099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1256100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256102	0.98[EUR][1000 genomes]
rs1256107	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1256108	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256110	0.91[CEU][hapmap]
rs1256111	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1256112	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[ASN][1000 genomes]
rs1256113	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1262246	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1270057	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886138	0.88[ASN][1000 genomes]
rs12889097	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12894546	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28570137	0.82[EUR][1000 genomes]
rs2987958	0.81[EUR][1000 genomes]
rs2987960	0.82[EUR][1000 genomes]
rs2987961	0.82[EUR][1000 genomes]
rs2987963	0.82[EUR][1000 genomes]
rs2987964	0.82[EUR][1000 genomes]
rs2987969	0.89[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2987970	0.82[EUR][1000 genomes]
rs2987971	0.82[EUR][1000 genomes]
rs2987982	0.82[EUR][1000 genomes]
rs3020439	0.81[EUR][1000 genomes]
rs3020441	0.82[EUR][1000 genomes]
rs3020445	0.80[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs35020344	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36016358	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4243628	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003153	0.82[EUR][1000 genomes]
rs8007217	0.81[EUR][1000 genomes]
rs8011386	1.00[YRI][hapmap]
rs8018032	0.81[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1256101	MTHFD1	cis	parietal	SCAN
rs1256101	MTHFD1	cis	Thyroid	GTEx
rs1256101	KCNH5	cis	parietal	SCAN
rs1256101	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:15 , 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	chr14:64827600-64830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:64829800-64832000	Enhancers	K562	blood
4	chr14:64830000-64830400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:64830000-64830400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:64830000-64830600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:64830000-64830600	Enhancers	Fetal Heart	heart
8	chr14:64830000-64830600	Enhancers	NHEK	skin
9	chr14:64830000-64830800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:64830000-64830800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:64830000-64830800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:64830000-64830800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:64830000-64831000	Enhancers	NHDF-Ad	bronchial
14	chr14:64830000-64832400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:64830000-64832400	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links