Variant report

Variant	rs7151230
Chromosome Location	chr14:68075877-68075878
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr14:68075495-68075885	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr14:68075622-68075917	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68073077..68076511-chr14:68087971..68090364,3	K562	blood:
2	chr14:68075056..68078713-chr14:68081163..68083960,3	K562	blood:
3	chr14:68075869..68077403-chr14:68140671..68142363,2	K562	blood:
4	chr14:68073926..68076120-chr14:68169505..68171234,2	MCF-7	breast:
5	chr14:68070149..68071743-chr14:68075491..68077430,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259502	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000259648	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10459532	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1059238	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs1120877	0.85[CEU][hapmap]
rs11622441	0.84[EUR][1000 genomes]
rs11623700	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11623785	0.85[CEU][hapmap]
rs11623961	0.85[CEU][hapmap]
rs11624498	0.84[EUR][1000 genomes]
rs11624868	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11625839	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628860	0.84[EUR][1000 genomes]
rs12050393	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs1555193	0.83[CEU][hapmap]
rs17104490	1.00[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104526	0.82[EUR][1000 genomes]
rs17104544	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs17104550	0.83[EUR][1000 genomes]
rs17249472	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2234511	0.84[EUR][1000 genomes]
rs28390085	0.81[EUR][1000 genomes]
rs28532066	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742880	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs3742881	0.85[EUR][1000 genomes]
rs4902506	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs4902508	0.85[EUR][1000 genomes]
rs56083029	0.83[EUR][1000 genomes]
rs56244142	0.85[EUR][1000 genomes]
rs56256221	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573790	0.91[CEU][hapmap]
rs7140310	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7142897	0.85[EUR][1000 genomes]
rs7144243	0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs7148327	1.00[CEU][hapmap]
rs7151205	0.84[EUR][1000 genomes]
rs7152326	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7155788	0.81[EUR][1000 genomes]
rs72721082	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721090	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72723111	0.84[EUR][1000 genomes]
rs72723115	0.84[EUR][1000 genomes]
rs72723122	0.85[EUR][1000 genomes]
rs72723126	0.85[EUR][1000 genomes]
rs72723137	0.85[EUR][1000 genomes]
rs72723144	0.85[EUR][1000 genomes]
rs761513	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs761514	0.84[EUR][1000 genomes]
rs8009250	0.83[EUR][1000 genomes]
rs8013767	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs8020591	0.84[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7151230	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 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	chr14:68071400-68076200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:68074800-68077600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:68075000-68076000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr14:68075000-68077200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr14:68075400-68077000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr14:68075400-68077400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr14:68075600-68076800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr14:68075800-68076400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr14:68075800-68077600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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