Variant report

Variant	rs3906865
Chromosome Location	chr12:40783127-40783128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40768243..40769926-chr12:40782774..40784277,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11564105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564134	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564154	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564174	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564186	1.00[CEU][hapmap]
rs11564188	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564189	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564208	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564211	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564254	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564257	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427262	0.85[YRI][hapmap]
rs17128169	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17128172	1.00[CEU][hapmap]
rs17128339	1.00[AMR][1000 genomes]
rs17128396	1.00[CEU][hapmap]
rs17519531	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs17519580	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17521316	1.00[CEU][hapmap]
rs2254475	1.00[CEU][hapmap]
rs28365208	1.00[CEU][hapmap]
rs61730701	1.00[AMR][1000 genomes]
rs73094608	1.00[AMR][1000 genomes]
rs73094944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102253	1.00[AMR][1000 genomes]
rs73102259	1.00[AMR][1000 genomes]
rs73102280	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102282	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102293	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106314	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106349	1.00[AMR][1000 genomes]
rs73106357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108336	1.00[AFR][1000 genomes]
rs73108345	1.00[AMR][1000 genomes]
rs73108347	1.00[AMR][1000 genomes]
rs73108352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73112034	1.00[AMR][1000 genomes]
rs73114293	1.00[AMR][1000 genomes]
rs73117528	1.00[AMR][1000 genomes]
rs7315719	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315853	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974320	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9668092	1.00[CEU][hapmap]

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	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1047639	chr12:40774370-40804386	Enhancers Weak transcription ZNF genes & repeats	TF binding region 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	chr12:40781600-40783400	Enhancers	Placenta	Placenta
2	chr12:40782000-40783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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