Variant report

Variant	rs12580531
Chromosome Location	chr12:32825906-32825907
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32608432..32610504-chr12:32824697..32826593,2	MCF-7	breast:
2	chr12:32825194..32826815-chr12:32830588..32832506,2	K562	blood:
3	chr12:32825253..32827056-chr12:32844852..32846744,2	K562	blood:

Variant related genes	Relation type
ENSG00000257643	Chromatin interaction
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10506100	1.00[JPT][hapmap]
rs11052113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs11052115	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs11052119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052134	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11052136	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11611761	1.00[JPT][hapmap]
rs12299270	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12299609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12299979	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12307858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12312688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12312968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12314569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12321158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12321285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12322190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs12366836	1.00[ASN][1000 genomes]
rs12579412	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12815754	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16920101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs16920249	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17539491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17539792	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs17539848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs17543624	1.00[JPT][hapmap]
rs1869652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1995226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs1995227	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2133543	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34032717	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4575368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs4931029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931030	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs4931647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55891447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331606	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56373028	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67215596	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67335394	0.81[ASN][1000 genomes]
rs67573810	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301619	1.00[JPT][hapmap]
rs7302961	0.81[ASN][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	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32824800-32831800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:32825000-32826000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:32825200-32826000	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr12:32825200-32826000	Enhancers	Fetal Brain Male	brain
5	chr12:32825200-32826000	Flanking Active TSS	Fetal Brain Female	brain
6	chr12:32825200-32827000	Weak transcription	Placenta	Placenta
7	chr12:32825200-32827000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:32825400-32826000	Enhancers	Fetal Muscle Leg	muscle
9	chr12:32825400-32827000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:32825600-32826600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:32825600-32827000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:32825600-32827000	Weak transcription	GM12878-XiMat	blood
13	chr12:32825600-32827200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:32825600-32827600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:32825600-32831800	Weak transcription	Fetal Thymus	thymus
16	chr12:32825800-32831800	Weak transcription	Adipose Nuclei	Adipose

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