Variant report

Variant	rs6518758
Chromosome Location	chr22:32371492-32371493
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	22:32360288-32405313..22:32764253-32784733	K562	blood:
2	22:32360288-32405313..22:32868055-32872511	K562	blood:
3	22:32012966-32043914..22:32360288-32405313	K562	blood:
4	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32750950-32761732	K562	blood:
6	22:32360288-32405313..22:32860159-32865649	K562	blood:
7	22:32360288-32405313..22:32740683-32750950	K562	blood:

Variant related genes	Relation type
ENSG00000205853	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000128276	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12166759	1.00[YRI][hapmap]
rs12167016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130256	0.84[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs130257	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs130264	0.84[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs130405	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13054053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17683807	0.90[MEX][hapmap]
rs17746358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes]
rs36065572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3761432	0.93[CEU][hapmap]
rs3788440	0.93[CEU][hapmap]
rs3827334	0.93[CEU][hapmap]
rs4821026	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753861	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7290696	0.81[MEX][hapmap]
rs7291050	0.81[MEX][hapmap]
rs738181	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8135356	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141732	0.89[MEX][hapmap]
rs933226	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9606893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606907	0.87[CEU][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs9606908	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs9609389	0.93[CEU][hapmap];0.96[MKK][hapmap]
rs9609396	0.87[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9609409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609427	0.84[ASW][hapmap];0.87[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs9609429	0.90[MEX][hapmap]
rs9619244	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621371	0.81[MEX][hapmap]
rs9621386	0.84[ASW][hapmap];0.87[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1055925	chr22:32358540-32450200	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1059240	chr22:32362689-32462511	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv544678	chr22:32362689-32462511	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6518758	TUG1	cis	cerebellum	SCAN
rs6518758	RFPL1	cis	cerebellum	SCAN
rs6518758	CCDC117	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32366800-32374400	Weak transcription	Small Intestine	intestine
2	chr22:32367000-32375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:32367200-32379800	Weak transcription	Fetal Heart	heart
4	chr22:32367400-32373200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:32367400-32376400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:32370600-32373000	Weak transcription	Fetal Intestine Large	intestine
7	chr22:32370800-32372600	Weak transcription	Fetal Intestine Small	intestine
8	chr22:32371000-32373000	Weak transcription	Duodenum Mucosa	Duodenum

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