Variant report

Variant	rs1677217
Chromosome Location	chr12:31760198-31760199
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1150943	0.80[EUR][1000 genomes]
rs1150945	0.80[EUR][1000 genomes]
rs1150954	0.80[EUR][1000 genomes]
rs1150955	0.83[EUR][1000 genomes]
rs1259353	0.80[EUR][1000 genomes]
rs1259356	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1259359	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1259405	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1259426	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1259437	0.83[EUR][1000 genomes]
rs1259438	0.83[EUR][1000 genomes]
rs1259441	0.83[EUR][1000 genomes]
rs1262390	0.80[EUR][1000 genomes]
rs1272773	0.83[EUR][1000 genomes]
rs1542536	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1677173	0.81[AMR][1000 genomes]
rs1677186	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1677187	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1677189	0.90[AMR][1000 genomes]
rs1716210	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061761	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4312145	0.89[EUR][1000 genomes]
rs498080	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs976874	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31745400-31760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:31758600-31761200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:31760000-31760200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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