Variant report

Variant	rs1866075
Chromosome Location	chr12:104297719-104297720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104293129..104295287-chr12:104295560..104297769,2	K562	blood:
2	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
3	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
4	chr12:104294934..104297771-chr12:104321554..104323667,2	MCF-7	breast:
5	chr12:104291172..104293021-chr12:104296690..104298441,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10745981	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10745985	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861111	1.00[ASN][1000 genomes]
rs1165595	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165667	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165671	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165679	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165683	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809773	1.00[ASN][1000 genomes]
rs12813601	1.00[ASN][1000 genomes]
rs12819539	1.00[ASN][1000 genomes]
rs12823195	1.00[ASN][1000 genomes]
rs17034955	1.00[ASN][1000 genomes]
rs2576953	1.00[ASN][1000 genomes]
rs2576956	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576959	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576968	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2576976	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722172	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2919806	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34309392	1.00[ASN][1000 genomes]
rs34811234	1.00[ASN][1000 genomes]
rs34863477	1.00[ASN][1000 genomes]
rs35392305	1.00[ASN][1000 genomes]
rs35642814	1.00[ASN][1000 genomes]
rs35844634	1.00[ASN][1000 genomes]
rs4964197	1.00[ASN][1000 genomes]
rs61939568	1.00[ASN][1000 genomes]
rs71466284	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71466286	1.00[ASN][1000 genomes]
rs71466293	1.00[ASN][1000 genomes]
rs73175816	1.00[ASN][1000 genomes]
rs9669259	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669708	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1866075	MIR3652	cis	Adipose Subcutaneous	GTEx
rs1866075	MIR3652	cis	Thyroid	GTEx
rs1866075	MIR3652	cis	Esophagus Muscularis	GTEx
rs1866075	MIR3652	cis	Esophagus Mucosa	GTEx
rs1866075	MIR3652	cis	Artery Tibial	GTEx
rs1866075	MIR3652	cis	Muscle Skeletal	GTEx
rs1866075	MIR3652	cis	Stomach	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:104294200-104298600	Enhancers	Fetal Thymus	thymus
4	chr12:104294200-104299000	Enhancers	Thymus	Thymus
5	chr12:104295600-104299000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:104295600-104299000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:104295600-104299200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:104295800-104298200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:104296000-104298400	Enhancers	Primary T cells from cord blood	blood
13	chr12:104296000-104301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:104297000-104299600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:104297000-104300000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:104297200-104299600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:104297600-104298000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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