Variant report

Variant	rs11622168
Chromosome Location	chr14:65027753-65027754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65026787..65029450-chr14:65030177..65032001,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10782452	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10873174	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11622941	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12323845	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435904	0.91[CHB][hapmap]
rs12436296	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1256144	0.80[EUR][1000 genomes]
rs12884911	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13329053	0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1453008	0.84[EUR][1000 genomes]
rs1542313	0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs17113846	0.87[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1742159	0.85[EUR][1000 genomes]
rs17824845	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1950302	0.91[CHB][hapmap]
rs1956419	0.91[CHB][hapmap]
rs2038271	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742604	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902291	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4902293	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573560	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66939314	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7143298	0.91[CHB][hapmap]
rs7152440	0.85[EUR][1000 genomes]
rs761546	0.84[EUR][1000 genomes]
rs9944101	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11622168	SIX1	cis	cerebellum	SCAN
rs11622168	ZBTB25	cis	cerebellum	SCAN
rs11622168	ZBTB1	cis	cerebellum	SCAN
rs11622168	MPP5	cis	parietal	SCAN
rs11622168	ZBTB25	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65017400-65027800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:65021400-65033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:65021600-65047600	Weak transcription	Pancreas	Pancrea
4	chr14:65023400-65033400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:65023800-65027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:65023800-65028800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65025000-65030200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:65027600-65028800	Enhancers	Hela-S3	cervix

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