Variant report

Variant	rs2576953
Chromosome Location	chr12:104299780-104299781
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
2	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10745985	1.00[ASN][1000 genomes]
rs10861111	1.00[ASN][1000 genomes]
rs11612613	0.84[EUR][1000 genomes]
rs1165595	1.00[ASN][1000 genomes]
rs1165667	1.00[ASN][1000 genomes]
rs1165671	1.00[ASN][1000 genomes]
rs1165679	1.00[ASN][1000 genomes]
rs1165683	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[ASN][1000 genomes]
rs2576956	1.00[ASN][1000 genomes]
rs2576959	1.00[ASN][1000 genomes]
rs2576968	1.00[ASN][1000 genomes]
rs2576976	1.00[ASN][1000 genomes]
rs2919806	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	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[ASN][1000 genomes]
rs9669708	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2576953	MIR3652	cis	Artery Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:104296000-104301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:104297000-104300000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:104298400-104299800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:104298600-104299800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:104299000-104299800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:104299000-104300000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
11	chr12:104299000-104301600	Weak transcription	Thymus	Thymus
12	chr12:104299400-104303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:104299600-104300000	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:104299600-104300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:104299600-104300600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:104299600-104300600	Enhancers	HMEC	breast
17	chr12:104299600-104300800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:104299600-104301400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104299600-104301600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:104299600-104302000	Enhancers	NHEK	skin
21	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood

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