Variant report

Variant	rs1261167
Chromosome Location	chr12:32242179-32242180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10771917	0.85[MEX][hapmap]
rs11051885	1.00[ASW][hapmap]
rs11051890	1.00[ASW][hapmap]
rs1143900	0.86[MEX][hapmap]
rs1143901	0.86[MEX][hapmap]
rs1260708	1.00[ASW][hapmap];0.86[CEU][hapmap];0.92[AMR][1000 genomes]
rs1261166	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13328922	1.00[ASW][hapmap]
rs1618256	0.86[MEX][hapmap]
rs1631036	0.92[AMR][1000 genomes]
rs1673857	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs1673858	0.92[AMR][1000 genomes]
rs1684146	0.84[AMR][1000 genomes]
rs1684149	0.86[CEU][hapmap];1.00[MEX][hapmap]
rs1716941	0.86[MEX][hapmap];0.81[AMR][1000 genomes]
rs1798260	0.92[AMR][1000 genomes]
rs1809241	0.86[MEX][hapmap]
rs2630578	0.85[MEX][hapmap]
rs2668301	0.85[MEX][hapmap]
rs2683487	1.00[YRI][hapmap]
rs4931615	0.85[MEX][hapmap]
rs4931616	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32228400-32242600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32230000-32259200	Weak transcription	Right Atrium	heart
3	chr12:32231800-32242600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:32233800-32242600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:32237600-32242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:32240600-32242400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:32240600-32242600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:32240600-32242600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:32240800-32242400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:32241800-32243000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:32241800-32243000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:32241800-32243200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:32241800-32243400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:32241800-32243400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:32241800-32243400	Enhancers	HMEC	breast

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