Variant report

Variant	rs13058031
Chromosome Location	chr22:29273966-29273967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29262040..29263818-chr22:29273723..29275867,2	K562	blood:
2	chr22:29273841..29275585-chr22:29663664..29665698,2	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1222	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap]
rs13053879	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13056243	0.94[CEU][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap]
rs16986825	0.94[CEU][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs16986838	0.94[CEU][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16986861	0.94[CEU][hapmap]
rs16986864	0.94[CEU][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap]
rs16987024	0.81[EUR][1000 genomes]
rs16987027	0.81[EUR][1000 genomes]
rs2236141	0.82[JPT][hapmap]
rs2267131	1.00[CEU][hapmap]
rs2269578	0.81[EUR][1000 genomes]
rs2301428	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2347448	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28458474	0.81[EUR][1000 genomes]
rs2881634	0.84[EUR][1000 genomes]
rs34206997	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35017742	0.81[EUR][1000 genomes]
rs35050306	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35814864	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4055	0.94[CEU][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap]
rs5752797	0.83[CEU][hapmap]
rs5752802	0.81[EUR][1000 genomes]
rs5752803	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs5752806	0.81[EUR][1000 genomes]
rs5752810	0.83[CEU][hapmap]
rs5752811	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs5752815	0.83[CEU][hapmap]
rs5752816	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs5762758	0.82[JPT][hapmap]
rs5762763	0.82[JPT][hapmap]
rs5762764	0.82[JPT][hapmap]
rs5762765	0.82[JPT][hapmap]
rs5762767	0.94[CEU][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs5762780	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs5762799	0.83[CEU][hapmap]
rs5762812	0.81[EUR][1000 genomes]
rs5762814	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs5762816	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs5762817	0.81[EUR][1000 genomes]
rs5762818	0.81[EUR][1000 genomes]
rs5762819	0.81[EUR][1000 genomes]
rs5762820	0.81[EUR][1000 genomes]
rs5762821	0.81[EUR][1000 genomes]
rs5762823	0.81[EUR][1000 genomes]
rs5762839	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs5762848	0.83[CEU][hapmap]
rs5762855	0.86[AFR][1000 genomes]
rs5762857	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs59203761	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59224170	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60468718	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs66471734	0.81[EUR][1000 genomes]
rs71327329	0.87[EUR][1000 genomes]
rs73170679	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739196	0.94[CEU][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs916332	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9625595	0.86[AFR][1000 genomes]
rs9625600	0.86[AFR][1000 genomes]
rs9625612	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13058031	MN1	cis	cerebellum	SCAN
rs13058031	RGL4	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29266200-29278400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29271200-29276000	Weak transcription	Fetal Muscle Leg	muscle
3	chr22:29271200-29276800	Weak transcription	HepG2	liver
4	chr22:29271400-29276000	Weak transcription	HSMMtube	muscle
5	chr22:29273600-29274000	Enhancers	Liver	Liver
6	chr22:29273600-29274200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:29273600-29274200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29273600-29274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:29273800-29274200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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