Variant report

Variant	rs1165667
Chromosome Location	chr12:104317560-104317561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104314393..104320294-chr12:104321148..104324855,10	K562	blood:
2	chr12:104313626..104315645-chr12:104317034..104319454,2	K562	blood:
3	chr12:104304220..104306668-chr12:104315880..104318249,2	K562	blood:
4	chr12:104307373..104313115-chr12:104313555..104318873,5	K562	blood:
5	chr12:104308000..104311397-chr12:104314818..104318186,4	K562	blood:

Variant related genes	Relation type
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000265072	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1007652	0.88[AMR][1000 genomes]
rs10745985	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861111	1.00[ASN][1000 genomes]
rs1165595	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165671	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165679	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165683	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[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]
rs1866075	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576953	1.00[ASN][1000 genomes]
rs2576956	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576959	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576968	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576971	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2576976	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583238	1.00[CEU][hapmap]
rs2722172	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2919806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[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]
rs35822062	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];0.84[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[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669708	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[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	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
2	esv3366129	chr12:104317556-104317834	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1165667	MIR3652	cis	Stomach	GTEx
rs1165667	MIR3652	cis	Esophagus Mucosa	GTEx
rs1165667	MIR3652	cis	Nerve Tibial	GTEx
rs1165667	MIR3652	cis	Artery Tibial	GTEx
rs1165667	MIR3652	cis	Adipose Subcutaneous	GTEx
rs1165667	MIR3652	cis	Esophagus Muscularis	GTEx
rs1165667	MIR3652	cis	Whole Blood	GTEx
rs1165667	MIR3652	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104306200-104320800	Weak transcription	Psoas Muscle	Psoas
2	chr12:104317200-104322600	Weak transcription	Aorta	Aorta
3	chr12:104317400-104322200	Weak transcription	Brain Anterior Caudate	brain

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