Variant report

Variant	rs12117680
Chromosome Location	chr1:221785169-221785170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10495169	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11118755	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11118757	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118759	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118764	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11118772	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11118774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118775	0.90[ASN][1000 genomes]
rs12021531	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12026855	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12039969	0.86[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12142838	0.90[EUR][1000 genomes]
rs12564947	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1338077	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1538249	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1933267	0.87[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4129174	0.87[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs953400	0.91[CEU][hapmap]
rs9658836	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9662660	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9725124	0.90[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	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	chr1:221780000-221785200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:221780000-221785400	Weak transcription	Adipose Nuclei	Adipose
3	chr1:221780200-221785200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:221780200-221785200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:221780200-221785200	Weak transcription	NHDF-Ad	bronchial
6	chr1:221782800-221785200	Weak transcription	A549	lung
7	chr1:221784600-221785200	Enhancers	Hela-S3	cervix
8	chr1:221784600-221785400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:221784600-221786200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:221785000-221785200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:221785000-221786000	Enhancers	Brain Germinal Matrix	brain
12	chr1:221785000-221786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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