Variant report

Variant	rs2991329
Chromosome Location	chr1:72069918-72069919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10749801	0.85[AFR][1000 genomes]
rs10749802	0.85[AFR][1000 genomes]
rs10789320	0.86[ASW][hapmap];0.85[LWK][hapmap]
rs10889925	0.86[ASW][hapmap];0.85[LWK][hapmap]
rs11209819	0.86[ASW][hapmap];0.85[AFR][1000 genomes]
rs1237570	0.85[AFR][1000 genomes]
rs1334986	0.94[AFR][1000 genomes]
rs1674954	0.85[AFR][1000 genomes]
rs1760607	0.88[AFR][1000 genomes]
rs1762723	0.80[AFR][1000 genomes]
rs1762733	0.85[AFR][1000 genomes]
rs1762735	0.85[AFR][1000 genomes]
rs2422018	0.85[AFR][1000 genomes]
rs2483663	0.85[AFR][1000 genomes]
rs2483664	0.85[AFR][1000 genomes]
rs2611625	0.85[AFR][1000 genomes]
rs2637688	0.85[AFR][1000 genomes]
rs2637689	0.85[AFR][1000 genomes]
rs2781151	0.85[AFR][1000 genomes]
rs2783044	0.85[AFR][1000 genomes]
rs2783045	0.85[AFR][1000 genomes]
rs2783050	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2794308	0.86[ASW][hapmap];0.85[LWK][hapmap];0.85[AFR][1000 genomes]
rs2992131	0.85[AFR][1000 genomes]
rs4556309	0.85[AFR][1000 genomes]
rs492016	0.86[ASW][hapmap];0.85[LWK][hapmap];0.85[AFR][1000 genomes]
rs500847	1.00[AFR][1000 genomes]
rs503093	1.00[AFR][1000 genomes]
rs503419	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs523835	1.00[AFR][1000 genomes]
rs553162	0.85[AFR][1000 genomes]
rs564363	0.86[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs568430	0.86[ASW][hapmap];1.00[LWK][hapmap];0.88[AFR][1000 genomes]
rs637576	0.86[ASW][hapmap];0.85[LWK][hapmap]
rs665125	0.84[AFR][1000 genomes]
rs6663352	0.85[AFR][1000 genomes]
rs666873	0.84[AFR][1000 genomes]
rs693808	0.86[ASW][hapmap];0.85[LWK][hapmap];0.80[AFR][1000 genomes]
rs7513706	0.85[AFR][1000 genomes]
rs979474	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72054800-72071800	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:72055000-72075800	Weak transcription	Stomach Smooth Muscle	stomach

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