Variant report

Variant	rs12196763
Chromosome Location	chr6:85895585-85895586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10944065	0.88[AMR][1000 genomes]
rs10944066	0.85[AMR][1000 genomes]
rs10944072	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10944073	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10944093	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11752482	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12198003	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12198648	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs12199725	0.88[MEX][hapmap]
rs12204198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206706	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12211596	0.90[EUR][1000 genomes]
rs1321745	1.00[ASN][1000 genomes]
rs1321747	0.94[ASN][1000 genomes]
rs1321749	0.94[ASN][1000 genomes]
rs1321750	0.94[ASN][1000 genomes]
rs1321751	0.94[ASN][1000 genomes]
rs1321752	0.94[ASN][1000 genomes]
rs1321753	0.82[EUR][1000 genomes]
rs1332371	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1407155	1.00[CHB][hapmap]
rs1407163	0.90[EUR][1000 genomes]
rs1407168	1.00[ASN][1000 genomes]
rs1590235	0.94[ASN][1000 genomes]
rs1590236	0.94[ASN][1000 genomes]
rs1590237	0.94[ASN][1000 genomes]
rs1885016	0.89[EUR][1000 genomes]
rs4053812	0.94[ASN][1000 genomes]
rs4363008	0.92[EUR][1000 genomes]
rs525779	1.00[CHB][hapmap]
rs6925411	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs721753	0.89[EUR][1000 genomes]
rs72918312	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7750840	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7751010	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7772456	0.88[AMR][1000 genomes]
rs9344467	0.94[ASN][1000 genomes]
rs9344468	0.94[ASN][1000 genomes]
rs9353253	0.89[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	nsv965655	chr6:85892490-85900588	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12196763	TBX18	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85894400-85898400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:85895200-85895800	Enhancers	Osteobl	bone
3	chr6:85895200-85897800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:85895400-85895600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:85895400-85898000	Enhancers	NHDF-Ad	bronchial
6	chr6:85895400-85898200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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