Variant report

Variant	rs2942230
Chromosome Location	chr11:106295632-106295633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1553938	0.95[ASN][1000 genomes]
rs2036964	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2458325	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2458326	0.87[ASN][1000 genomes]
rs2458327	0.94[ASN][1000 genomes]
rs2458335	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2458336	0.80[ASN][1000 genomes]
rs2458339	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2458340	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2458342	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2458346	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513602	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2513608	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2513609	0.81[ASN][1000 genomes]
rs2513610	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2942229	0.95[ASN][1000 genomes]
rs907648	0.89[ASN][1000 genomes]
rs953816	0.94[ASN][1000 genomes]
rs975377	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs975392	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs975393	0.88[ASN][1000 genomes]
rs975394	0.88[ASN][1000 genomes]
rs975395	0.88[ASN][1000 genomes]
rs994791	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1054471	chr11:106168484-106427713	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106292200-106297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:106293600-106295800	Enhancers	HMEC	breast
3	chr11:106294000-106295800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:106294000-106295800	Enhancers	NHDF-Ad	bronchial
5	chr11:106294400-106295800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:106294400-106296200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:106295200-106296000	Enhancers	Osteobl	bone
8	chr11:106295400-106296000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:106295400-106297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:106295600-106296800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:106295600-106297000	Weak transcription	NHEK	skin
12	chr11:106295600-106297200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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