Variant report

Variant	rs11118893
Chromosome Location	chr1:222085672-222085673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11118890	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11118891	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11579212	0.87[EUR][1000 genomes]
rs11579232	0.92[EUR][1000 genomes]
rs12126771	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12126886	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12127506	0.93[EUR][1000 genomes]
rs35192818	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56199684	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6673317	0.93[EUR][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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222075200-222097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:222081200-222097600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:222083200-222092600	Weak transcription	HSMMtube	muscle
4	chr1:222083600-222092400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:222084600-222085800	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:222084600-222086000	Enhancers	GM12878-XiMat	blood
7	chr1:222084800-222087200	Weak transcription	Esophagus	oesophagus
8	chr1:222085000-222085800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:222085000-222086200	Enhancers	HMEC	breast
10	chr1:222085200-222086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:222085400-222085800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:222085400-222086000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:222085600-222085800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:222085600-222086000	Enhancers	HSMM	muscle
15	chr1:222085600-222086000	Enhancers	NHEK	skin
16	chr1:222085600-222086000	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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