Variant report

Variant	rs6722739
Chromosome Location	chr2:188963022-188963023
allele	A/G
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:18)

rs_ID	r²[population]
rs11893148	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618234	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621773	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1583765	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866541	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866542	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118995	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118996	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118997	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882445	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34334586	1.00[ASN][1000 genomes]
rs4667210	1.00[ASN][1000 genomes]
rs6434261	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742545	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750996	1.00[ASN][1000 genomes]
rs6757841	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7568242	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7582658	0.80[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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584045	chr2:188949715-189003106	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:188960200-188968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:188963000-188963200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:188963000-188963600	Enhancers	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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