Variant report

Variant	rs9369014
Chromosome Location	chr6:37584310-37584311
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	chr6:37583937..37586472-chr6:37588985..37590758,2	K562	blood:
2	chr6:37583299..37586472-chr6:37588985..37593847,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12663898	0.85[ASN][1000 genomes]
rs12665558	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12665609	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13191142	0.86[ASN][1000 genomes]
rs13199706	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13216911	0.85[ASN][1000 genomes]
rs13217481	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13217642	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17742617	0.89[ASN][1000 genomes]
rs1883898	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34207353	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34278717	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34952823	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35238957	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66497557	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67395334	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71569386	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71569387	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72846588	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs804821	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs804822	0.86[ASN][1000 genomes]
rs810855	0.89[ASN][1000 genomes]
rs9349049	0.85[ASN][1000 genomes]
rs9366939	0.89[ASN][1000 genomes]
rs9366940	0.89[ASN][1000 genomes]
rs9366942	0.85[ASN][1000 genomes]
rs9369012	0.89[ASN][1000 genomes]
rs9369013	0.89[ASN][1000 genomes]
rs9380693	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380694	0.85[ASN][1000 genomes]
rs9394443	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394444	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9637970	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv602955	chr6:37581200-37599962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9369014	CDKN1A	cis	parietal	SCAN
rs9369014	DEF6	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37581200-37584400	Enhancers	K562	blood
2	chr6:37582600-37584400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:37583000-37584400	Enhancers	Osteobl	bone
4	chr6:37583200-37584400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:37583200-37584400	Enhancers	NHDF-Ad	bronchial
6	chr6:37583200-37584600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:37583200-37584800	Enhancers	NH-A	brain
8	chr6:37583200-37587200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:37583400-37584400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:37583600-37584600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:37583600-37587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:37583800-37584600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:37583800-37584600	Enhancers	Hela-S3	cervix
14	chr6:37583800-37586600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:37584000-37584400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:37584200-37584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:37584200-37584800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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