Variant report

Variant	rs10944094
Chromosome Location	chr6:85950455-85950456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1321733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1321745	0.84[EUR][1000 genomes]
rs1321747	0.84[EUR][1000 genomes]
rs1321750	0.85[EUR][1000 genomes]
rs1321751	0.85[EUR][1000 genomes]
rs1321752	0.85[EUR][1000 genomes]
rs1321753	0.87[ASN][1000 genomes]
rs1407154	1.00[EUR][1000 genomes]
rs1407155	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1407168	0.83[EUR][1000 genomes]
rs1535313	1.00[EUR][1000 genomes]
rs1547702	1.00[EUR][1000 genomes]
rs1570108	0.99[EUR][1000 genomes]
rs1590235	0.85[EUR][1000 genomes]
rs1590236	0.85[EUR][1000 genomes]
rs1590237	0.85[EUR][1000 genomes]
rs1853125	0.90[EUR][1000 genomes]
rs1853126	0.90[EUR][1000 genomes]
rs1853129	0.93[EUR][1000 genomes]
rs1853130	0.93[EUR][1000 genomes]
rs1853131	0.93[EUR][1000 genomes]
rs1958940	1.00[EUR][1000 genomes]
rs1981018	0.98[EUR][1000 genomes]
rs2183944	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2210479	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4053812	0.85[EUR][1000 genomes]
rs4400187	0.93[EUR][1000 genomes]
rs4484492	1.00[EUR][1000 genomes]
rs4707141	0.85[EUR][1000 genomes]
rs4707142	0.85[EUR][1000 genomes]
rs4707143	0.85[EUR][1000 genomes]
rs504604	1.00[EUR][1000 genomes]
rs525779	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs537411	0.98[EUR][1000 genomes]
rs550481	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs552249	0.99[EUR][1000 genomes]
rs554187	1.00[EUR][1000 genomes]
rs559487	0.99[EUR][1000 genomes]
rs562380	0.91[EUR][1000 genomes]
rs6454456	0.95[EUR][1000 genomes]
rs648993	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6922736	1.00[EUR][1000 genomes]
rs6937238	0.89[EUR][1000 genomes]
rs700499	0.95[EUR][1000 genomes]
rs700500	0.95[EUR][1000 genomes]
rs700502	0.95[EUR][1000 genomes]
rs700506	0.94[EUR][1000 genomes]
rs700509	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7753409	1.00[EUR][1000 genomes]
rs7762165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7771273	1.00[EUR][1000 genomes]
rs7772310	0.90[EUR][1000 genomes]
rs9342025	0.95[EUR][1000 genomes]
rs9344467	0.85[EUR][1000 genomes]
rs9344468	0.85[EUR][1000 genomes]
rs9351040	0.90[EUR][1000 genomes]
rs9353253	0.85[EUR][1000 genomes]
rs9353292	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1020221	chr6:85942790-85964024	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10944094	TBX18	cis	cerebellum	SCAN
rs10944094	RIPPLY2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85949600-85952000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:85950400-85951000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:85950400-85951000	Enhancers	Osteobl	bone
4	chr6:85950400-85951400	Enhancers	HUVEC	blood vessel
5	chr6:85950400-85952000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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