Variant report

Variant	rs10950502
Chromosome Location	chr7:14052897-14052898
allele	A/G
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	CEBPB	chr7:14052790-14053047	IMR90	lung:	n/a	n/a
2	CEBPB	chr7:14052749-14053057	K562	blood:	n/a	n/a
3	CEBPB	chr7:14052757-14053044	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:14051050-14054394	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14030718..14032259-chr7:14052661..14054542,2	K562	blood:

Variant related genes	Relation type
ENSG00000252374	TF binding region
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11765313	1.00[AFR][1000 genomes]
rs11768508	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11772231	1.00[AFR][1000 genomes]
rs11772295	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12154297	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12154307	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12154599	1.00[ASN][1000 genomes]
rs13244049	1.00[CHB][hapmap]
rs16878042	1.00[AFR][1000 genomes]
rs17167684	1.00[AFR][1000 genomes]
rs17167722	1.00[AFR][1000 genomes]
rs17167735	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17167741	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17167742	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17167773	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17167791	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17167826	1.00[AFR][1000 genomes]
rs62452784	1.00[ASN][1000 genomes]
rs62452785	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62452786	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62452787	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62452788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62452792	0.87[ASN][1000 genomes]
rs62452794	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62452795	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62452797	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62452798	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62452801	1.00[AFR][1000 genomes]
rs62452805	1.00[AFR][1000 genomes]
rs62452829	1.00[AFR][1000 genomes]
rs62452832	1.00[AFR][1000 genomes]
rs62452833	1.00[AFR][1000 genomes]
rs62454612	1.00[AFR][1000 genomes]
rs62454614	1.00[AFR][1000 genomes]
rs62454616	1.00[AFR][1000 genomes]
rs62454617	1.00[AFR][1000 genomes]
rs62454618	1.00[AFR][1000 genomes]
rs62454619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62454620	1.00[AFR][1000 genomes]
rs62454644	1.00[AFR][1000 genomes]
rs62454649	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62454651	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6461058	1.00[CHB][hapmap]
rs6961762	1.00[CHB][hapmap]
rs73052213	1.00[AFR][1000 genomes]
rs73054156	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73057914	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73057927	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73059926	1.00[AFR][1000 genomes]
rs73059973	1.00[AFR][1000 genomes]
rs7349970	1.00[AFR][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	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10950502	SYK	trans	lymphoblastoid	seeQTL
rs10950502	HOPX	trans	lymphoblastoid	seeQTL
rs10950502	ALOX5	trans	lymphoblastoid	seeQTL
rs10950502	SGCE	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14050200-14070800	Weak transcription	K562	blood
2	chr7:14051800-14053200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links