Variant report

Variant	rs9853385
Chromosome Location	chr3:22732603-22732604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1159615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303790	0.95[EUR][1000 genomes]
rs1303791	0.95[EUR][1000 genomes]
rs1380365	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1459520	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1520842	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1524302	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1524317	0.84[ASN][1000 genomes]
rs1524318	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1524319	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1524320	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1818884	0.94[EUR][1000 genomes]
rs1916922	0.80[AFR][1000 genomes]
rs2066972	0.94[EUR][1000 genomes]
rs2358925	0.80[AFR][1000 genomes]
rs4858048	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4858426	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4858427	0.95[EUR][1000 genomes]
rs4858428	0.92[EUR][1000 genomes]
rs4858430	0.92[EUR][1000 genomes]
rs4858431	0.95[EUR][1000 genomes]
rs60139731	0.96[EUR][1000 genomes]
rs6550710	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6550711	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6769902	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67912759	0.87[EUR][1000 genomes]
rs6803466	0.93[EUR][1000 genomes]
rs6806040	0.95[EUR][1000 genomes]
rs6806043	0.80[AFR][1000 genomes]
rs7609901	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs909017	0.83[CHB][hapmap]
rs9756878	0.88[EUR][1000 genomes]
rs9810200	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9812904	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9834251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9844346	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9847981	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9861855	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9868624	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460477	chr3:22532660-22920246	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv589941	chr3:22532660-22920246	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014828	chr3:22554271-23033498	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1012343	chr3:22560733-22811382	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv589946	chr3:22600086-22865347	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1007224	chr3:22612682-22809139	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv536522	chr3:22612682-22809139	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1011446	chr3:22612682-22864885	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1837373	chr3:22723578-22737463	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22727200-22733000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:22727400-22733000	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:22732200-22733600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:22732400-22733800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:22732400-22734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:22732400-22734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:22732400-22734600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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