Variant report

Variant	rs11941084
Chromosome Location	chr4:91254663-91254664
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10025951	1.00[MEX][hapmap]
rs10026112	1.00[MEX][hapmap]
rs10031148	1.00[MEX][hapmap]
rs10452165	1.00[AMR][1000 genomes]
rs11933080	1.00[MEX][hapmap]
rs11937852	1.00[MEX][hapmap]
rs11944787	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945084	1.00[MEX][hapmap]
rs11946053	1.00[MEX][hapmap]
rs11947451	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947703	1.00[MEX][hapmap]
rs17016811	0.86[ASW][hapmap]
rs17016824	0.86[ASW][hapmap]
rs35299649	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6813228	1.00[MEX][hapmap]
rs6828199	1.00[MEX][hapmap]
rs6831098	1.00[MEX][hapmap]
rs6832140	1.00[MEX][hapmap]
rs6838438	1.00[MEX][hapmap]
rs6848616	1.00[MEX][hapmap]
rs7356145	1.00[MEX][hapmap]
rs7676938	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007826	chr4:91049593-91438961	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537177	chr4:91049593-91438961	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv999065	chr4:91049593-91520073	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv879542	chr4:91185206-91287204	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs11941084	ITPKB	trans	lymphoblastoid	seeQTL
rs11941084	ADCY1	trans	lymphoblastoid	seeQTL
rs11941084	TMEM2	trans	lymphoblastoid	seeQTL
rs11941084	TREML3	trans	lymphoblastoid	seeQTL
rs11941084	ITGAX	trans	lymphoblastoid	seeQTL
rs11941084	PTK2	trans	lymphoblastoid	seeQTL
rs11941084	GEM	trans	lymphoblastoid	seeQTL
rs11941084	TOX	trans	lymphoblastoid	seeQTL
rs11941084	ARHGAP25	trans	lymphoblastoid	seeQTL
rs11941084	BANK1	trans	lymphoblastoid	seeQTL
rs11941084	CREB5	trans	lymphoblastoid	seeQTL
rs11941084	TFEC	trans	lymphoblastoid	seeQTL
rs11941084	INPP5F	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91244600-91270200	Weak transcription	Pancreas	Pancrea
2	chr4:91250000-91256800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:91250200-91255000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:91250600-91259200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:91253000-91257800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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