Variant report

Variant	rs17167750
Chromosome Location	chr7:14053193-14053194
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	EP300	chr7:14052984-14053394	SK-N-SH_RA	brain:	n/a	chr7:14053290-14053304
2	GATA3	chr7:14053116-14054131	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:14051050-14054394	K562	blood:	n/a	n/a
4	EP300	chr7:14053020-14053483	SK-N-SH_RA	brain:	n/a	chr7:14053290-14053304

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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10225078	0.88[JPT][hapmap]
rs10454309	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878059	1.00[EUR][1000 genomes]
rs17167695	1.00[EUR][1000 genomes]
rs17167731	0.91[YRI][hapmap]
rs17167732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17167746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167778	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17167783	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17167784	0.82[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17167806	0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs17167809	0.85[CHD][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs17167812	0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17167842	1.00[EUR][1000 genomes]
rs17167848	1.00[EUR][1000 genomes]
rs17167853	1.00[EUR][1000 genomes]
rs2079353	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2190063	0.82[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2190064	0.84[ASN][1000 genomes]
rs35291842	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3919485	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4719388	0.92[AMR][1000 genomes]
rs58567888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60718708	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62452789	0.89[AMR][1000 genomes]
rs6946618	0.92[MEX][hapmap];0.82[AMR][1000 genomes]
rs73057909	0.89[AMR][1000 genomes]
rs9639173	1.00[EUR][1000 genomes]
rs9639174	1.00[EUR][1000 genomes]
rs9639175	1.00[EUR][1000 genomes]
rs9639176	1.00[EUR][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

No data

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