Variant report

Variant	rs61927090
Chromosome Location	chr12:66581382-66581383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10506480	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11465955	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11465970	0.88[EUR][1000 genomes]
rs1179917	0.88[EUR][1000 genomes]
rs17767286	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17767298	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1821777	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1882200	0.88[EUR][1000 genomes]
rs2289134	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2293657	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3782347	0.80[EUR][1000 genomes]
rs4762087	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4762088	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55715236	0.88[EUR][1000 genomes]
rs56156535	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56365678	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61927088	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302556	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7315220	0.87[EUR][1000 genomes]

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61927090	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66579600-66582400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:66580400-66581600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:66580600-66582400	Enhancers	Primary B cells from cord blood	blood
4	chr12:66580600-66583000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:66580800-66581400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr12:66580800-66581400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:66580800-66582200	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:66580800-66582200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:66581000-66581400	Enhancers	Right Atrium	heart
10	chr12:66581000-66582400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:66581200-66581400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:66581200-66581600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links