Variant report

Variant	rs493007
Chromosome Location	chr2:141412242-141412243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10168291	0.84[AMR][1000 genomes]
rs10177333	0.84[AMR][1000 genomes]
rs12470579	1.00[CEU][hapmap]
rs12992011	0.97[ASN][1000 genomes]
rs13008448	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13015716	0.97[ASN][1000 genomes]
rs13018292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13035521	1.00[CEU][hapmap]
rs1441470	0.84[AMR][1000 genomes]
rs16844395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16844448	1.00[CEU][hapmap]
rs17497508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2890532	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs34984492	0.97[ASN][1000 genomes]
rs35099867	0.99[ASN][1000 genomes]
rs476680	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs494335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs4954847	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4954848	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs501027	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs503635	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs506281	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs510927	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs549871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs549904	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs550900	0.82[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap]
rs555101	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs561348	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs574456	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583193	chr2:141365171-141415043	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv875194	chr2:141391918-141504719	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875195	chr2:141407101-141542081	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv583194	chr2:141409166-141471725	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875196	chr2:141409166-141471725	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv875197	chr2:141409166-141478468	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv875198	chr2:141409166-141571329	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv875199	chr2:141409166-141600366	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141409400-141413000	Weak transcription	HUVEC	blood vessel
2	chr2:141411800-141412600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:141412000-141412400	Flanking Active TSS	A549	lung
4	chr2:141412000-141412600	Enhancers	Fetal Brain Female	brain
5	chr2:141412200-141412400	Enhancers	Hela-S3	cervix

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