Variant report

Variant	rs17042399
Chromosome Location	chr2:21686230-21686231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10490609	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10490610	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895666	0.89[ASN][1000 genomes]
rs12611495	0.84[ASN][1000 genomes]
rs12611610	0.84[ASN][1000 genomes]
rs12613395	0.84[ASN][1000 genomes]
rs12613921	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12614377	0.84[ASN][1000 genomes]
rs12615116	0.84[ASN][1000 genomes]
rs12615149	0.84[ASN][1000 genomes]
rs12616024	0.84[ASN][1000 genomes]
rs12619415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623465	0.84[ASN][1000 genomes]
rs12623812	0.84[ASN][1000 genomes]
rs1544858	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17042271	0.92[CHB][hapmap]
rs17042275	0.92[CHB][hapmap]
rs17042324	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17042327	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17042331	0.89[ASN][1000 genomes]
rs17042333	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17042337	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17042346	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17042350	0.95[ASN][1000 genomes]
rs17042355	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17042358	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17042361	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042368	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17042369	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17042388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17042402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042404	1.00[ASN][1000 genomes]
rs35659083	1.00[EUR][1000 genomes]
rs55692465	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59677792	1.00[EUR][1000 genomes]
rs60005484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60036630	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61007556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546581	1.00[EUR][1000 genomes]
rs6714370	0.84[CHB][hapmap]
rs73919255	1.00[EUR][1000 genomes]
rs73919263	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73919265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73919285	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73919288	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73919289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73919290	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73919295	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73919296	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73919299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607516	1.00[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	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21646800-21690600	Weak transcription	Aorta	Aorta
2	chr2:21684400-21687200	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:21684600-21687000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:21685000-21686400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:21685400-21686800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:21686000-21689400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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