Variant report

Variant	rs28370694
Chromosome Location	chr12:40351601-40351602
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11564198	0.82[CHB][hapmap]
rs17442283	1.00[CHB][hapmap]
rs17458100	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17458452	1.00[CHB][hapmap]
rs17489344	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489542	1.00[CHB][hapmap]
rs17489764	1.00[AMR][1000 genomes]
rs17490062	1.00[AMR][1000 genomes]
rs17518134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17518532	1.00[AMR][1000 genomes]
rs17518910	1.00[AMR][1000 genomes]
rs17519034	1.00[AMR][1000 genomes]
rs28370638	1.00[CHB][hapmap]
rs28370640	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28370664	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs28370674	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs28370675	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs28370705	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370706	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370707	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28370714	1.00[AMR][1000 genomes]
rs28370720	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370724	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370729	1.00[CHB][hapmap]
rs28370743	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370761	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370790	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370793	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370828	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28740190	1.00[CHB][hapmap]
rs28740214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310416	1.00[AMR][1000 genomes]
rs7978216	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40338000-40366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40347800-40369800	Weak transcription	Pancreas	Pancrea
3	chr12:40348200-40361400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:40350600-40351800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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