Variant report

Variant	rs7148327
Chromosome Location	chr14:68071772-68071773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr14:68071630-68071941	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68069930..68072024-chr14:68077530..68079318,2	MCF-7	breast:
2	chr14:68067053..68068566-chr14:68070076..68072471,2	K562	blood:

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000259502	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10459532	0.83[CEU][hapmap]
rs1059238	0.83[CEU][hapmap]
rs1120877	0.83[CEU][hapmap]
rs11623700	0.83[CEU][hapmap]
rs11623785	0.83[CEU][hapmap]
rs11623961	0.83[CEU][hapmap]
rs11624868	0.83[AMR][1000 genomes]
rs12050393	0.83[CEU][hapmap]
rs1555193	0.83[CEU][hapmap]
rs17104490	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs17104544	0.83[CEU][hapmap]
rs17249472	0.83[CEU][hapmap]
rs2235962	0.83[JPT][hapmap]
rs2295108	0.83[JPT][hapmap]
rs3742880	0.83[CEU][hapmap]
rs4899214	0.84[GIH][hapmap]
rs4902506	0.83[CEU][hapmap]
rs6573790	0.91[CEU][hapmap]
rs7140310	0.83[CEU][hapmap]
rs7144186	0.81[CEU][hapmap]
rs7151230	1.00[CEU][hapmap]
rs7152326	0.91[CEU][hapmap]
rs7160196	0.82[JPT][hapmap]
rs72721082	0.83[AMR][1000 genomes]
rs761513	0.83[CEU][hapmap]
rs8013767	0.83[CEU][hapmap]
rs8020591	0.81[CEU][hapmap]

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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7148327	RDH11	Cis_1M	lymphoblastoid	RTeQTL
rs7148327	ZBTB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68071400-68071800	Enhancers	HepG2	liver
3	chr14:68071400-68076200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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