Variant report

Variant	rs73101527
Chromosome Location	chr12:40809132-40809133
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000258167	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564188	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128169	1.00[AMR][1000 genomes]
rs17128339	1.00[AMR][1000 genomes]
rs17519531	1.00[AMR][1000 genomes]
rs17519580	1.00[AMR][1000 genomes]
rs3906865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
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]
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]
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]
rs73117565	1.00[AMR][1000 genomes]
rs7315719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv558599	chr12:40790698-40814452	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv558600	chr12:40802840-40820632	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv558601	chr12:40802840-40824917	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv558602	chr12:40802840-40825487	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2755842	chr12:40803788-40821478	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2755523	chr12:40804386-40821478	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40799600-40813200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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