Variant report

Variant	rs1506378
Chromosome Location	chr12:30552570-30552571
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	chr12:30552137..30554931-chr2:19547120..19549825,2	K562	blood:

Variant related genes	Relation type
ENSG00000266738	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10771705	0.82[EUR][1000 genomes]
rs10771706	0.82[EUR][1000 genomes]
rs10771707	0.81[EUR][1000 genomes]
rs10771708	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10843735	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10843736	0.81[ASN][1000 genomes]
rs10843737	0.82[EUR][1000 genomes]
rs10843738	0.81[ASN][1000 genomes]
rs10843739	0.81[ASN][1000 genomes]
rs11050870	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050871	0.81[ASN][1000 genomes]
rs11050872	0.81[ASN][1000 genomes]
rs11050873	0.81[ASN][1000 genomes]
rs1114354	0.81[ASN][1000 genomes]
rs1354714	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366942	0.81[ASN][1000 genomes]
rs1366943	0.81[ASN][1000 genomes]
rs1429634	0.81[EUR][1000 genomes]
rs1500107	0.81[ASN][1000 genomes]
rs1506379	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506380	0.81[ASN][1000 genomes]
rs1506382	0.81[ASN][1000 genomes]
rs2062997	0.80[ASN][1000 genomes]
rs2062998	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2088710	0.94[EUR][1000 genomes]
rs2115687	0.81[ASN][1000 genomes]
rs2163113	0.81[ASN][1000 genomes]
rs2351474	0.81[ASN][1000 genomes]
rs3843051	0.81[ASN][1000 genomes]
rs3853384	0.81[ASN][1000 genomes]
rs3853385	0.82[EUR][1000 genomes]
rs4280081	0.81[ASN][1000 genomes]
rs4930922	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931325	0.81[ASN][1000 genomes]
rs7298853	0.81[ASN][1000 genomes]
rs7315137	0.81[ASN][1000 genomes]
rs7968941	0.81[ASN][1000 genomes]
rs7977669	0.81[ASN][1000 genomes]
rs7978039	0.81[ASN][1000 genomes]
rs7979416	0.81[ASN][1000 genomes]
rs7979650	0.81[ASN][1000 genomes]
rs978711	0.96[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1042998	chr12:30549221-30583230	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1506378	ZNF148	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30546600-30555000	Weak transcription	Liver	Liver
2	chr12:30551800-30552800	Enhancers	K562	blood
3	chr12:30551800-30555400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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