Variant report

Variant	rs2299456
Chromosome Location	chr7:126168766-126168767
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	7:126154600-126176992..7:127221502-127225864	Hela-S3	cervix:
2	7:126154600-126176992..7:126756671-126761022	H1-hESC	embryonic stem cell:	embryo
3	7:126154600-126176992..7:127009457-127018926	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10230565	0.91[EUR][1000 genomes]
rs10255674	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs10265534	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs12154383	0.91[EUR][1000 genomes]
rs12155435	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs12706734	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706735	0.94[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs13225837	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13237736	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13237792	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13238224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13242782	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13243571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1990247	0.94[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2066902	0.94[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2098033	0.90[EUR][1000 genomes]
rs34843956	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35271256	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73224943	0.91[EUR][1000 genomes]
rs7807141	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1023465	chr7:125873329-126191422	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1028204	chr7:125897362-126225444	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv539118	chr7:125897362-126225444	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1033349	chr7:126010250-126168918	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv521803	chr7:126149319-126219766	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126157600-126170400	Weak transcription	Left Ventricle	heart
2	chr7:126165800-126172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:126166600-126171600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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