Variant report

Variant	rs34878787
Chromosome Location	chr12:66460958-66460959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10735933	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989009	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	nsv899213	chr12:66389968-66500036	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832446	chr12:66393863-66501484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34878787	RP11-745O10.2	cis	Muscle Skeletal	GTEx
rs34878787	RP11-745O10.2	cis	Whole Blood	GTEx
rs34878787	RP11-745O10.2	cis	lung	GTEx
rs34878787	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL
rs34878787	RP11-745O10.2	cis	Thyroid	GTEx
rs34878787	IRAK3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66455800-66461200	Enhancers	NHDF-Ad	bronchial
2	chr12:66457800-66461200	Enhancers	NHLF	lung
3	chr12:66458800-66461200	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:66459400-66461000	Enhancers	Fetal Brain Male	brain
5	chr12:66459400-66461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:66459400-66461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:66459600-66461000	Enhancers	Fetal Brain Female	brain
8	chr12:66460000-66461000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:66460000-66461200	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:66460000-66461200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:66460000-66461400	Flanking Active TSS	GM12878-XiMat	blood
12	chr12:66460200-66461000	Enhancers	Fetal Kidney	kidney
13	chr12:66460200-66461000	Enhancers	Osteobl	bone
14	chr12:66460200-66461200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:66460200-66461400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:66460400-66461000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:66460600-66461000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:66460800-66461200	Enhancers	HepG2	liver
19	chr12:66460800-66461400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:66460800-66464600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:66460800-66465200	Weak transcription	Primary B cells from cord blood	blood
22	chr12:66460800-66466000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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