Variant report

Variant	rs7454157
Chromosome Location	chr6:12909874-12909875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1014342	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12526453	0.88[CEU][hapmap]
rs12530250	0.88[EUR][1000 genomes]
rs13197912	0.88[EUR][1000 genomes]
rs1332844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs1953088	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2327620	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327621	0.92[CEU][hapmap]
rs2876302	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2876303	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711863	0.92[CEU][hapmap]
rs4714955	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4714990	0.92[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs62389955	0.88[EUR][1000 genomes]
rs6458545	0.92[CEU][hapmap]
rs6902050	0.84[CHD][hapmap]
rs6911226	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6915761	0.86[ASN][1000 genomes]
rs6915983	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6925904	0.98[EUR][1000 genomes]
rs7739181	0.92[CEU][hapmap]
rs7750679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs7751826	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7760016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760527	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180558	0.92[CEU][hapmap]
rs9296512	1.00[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.97[EUR][1000 genomes]
rs9369640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9369650	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9369652	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9381494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381500	0.92[CEU][hapmap]
rs9395214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9463278	0.80[ASN][1000 genomes]
rs9472965	0.83[ASN][1000 genomes]

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12896600-12911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:12906000-12912000	Weak transcription	Aorta	Aorta
3	chr6:12907000-12911200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:12907800-12911400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:12908800-12911000	Enhancers	Fetal Brain Female	brain
6	chr6:12909000-12910000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:12909000-12910000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:12909400-12910600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:12909600-12910200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:12909600-12910400	Enhancers	Fetal Brain Male	brain
11	chr6:12909800-12910200	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr6:12909800-12910400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:12909800-12912200	Enhancers	Fetal Heart	heart

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