Variant report

Variant	rs12667394
Chromosome Location	chr7:66070740-66070741
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66068353..66070947-chr7:66081695..66083819,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10950047	0.90[ASN][1000 genomes]
rs11766583	0.85[ASN][1000 genomes]
rs12666079	0.91[ASN][1000 genomes]
rs1267814	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13311962	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1638724	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1638725	0.96[ASN][1000 genomes]
rs1638728	0.96[ASN][1000 genomes]
rs1638732	0.95[ASN][1000 genomes]
rs1638735	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1796212	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1796217	1.00[ASN][1000 genomes]
rs1796218	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1796219	0.96[ASN][1000 genomes]
rs1796222	0.84[ASN][1000 genomes]
rs1796226	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1796227	1.00[ASN][1000 genomes]
rs1860471	0.85[ASN][1000 genomes]
rs1862085	0.86[ASN][1000 genomes]
rs1922722	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2052089	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2420612	0.86[ASN][1000 genomes]
rs2533282	0.95[ASN][1000 genomes]
rs2533283	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2533284	0.95[ASN][1000 genomes]
rs2707851	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28425729	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28817617	0.88[ASN][1000 genomes]
rs2901267	0.82[AFR][1000 genomes]
rs4718364	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4718385	0.91[ASN][1000 genomes]
rs6460311	0.96[ASN][1000 genomes]
rs6947441	0.90[ASN][1000 genomes]
rs6950988	0.85[ASN][1000 genomes]
rs6961853	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6966953	0.90[ASN][1000 genomes]
rs73152714	0.86[ASN][1000 genomes]
rs73377549	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73377594	0.82[AFR][1000 genomes]
rs801199	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs801210	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs801212	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs801213	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs964971	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv981511	chr7:66067376-66075921	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12667394	GS1-124K5.11	cis	Thyroid	GTEx
rs12667394	GTF2IRD1P1	cis	Thyroid	GTEx
rs12667394	RABGEF1,KCTD7,LOC100289135,LOC729156,tcag7.951	cis	brain	BrainEAC
rs12667394	GS1-124K5.4	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66070000-66073800	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links