Variant report

Variant	rs11948139
Chromosome Location	chr5:167209606-167209607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10060956	0.85[CEU][hapmap]
rs10064302	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064701	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068821	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070839	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs10072896	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454966	1.00[ASN][1000 genomes]
rs13357813	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357822	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13436693	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364369	0.86[LWK][hapmap]
rs1549310	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs17069188	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862875	1.00[ASN][1000 genomes]
rs2337001	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34725756	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325704	1.00[ASN][1000 genomes]
rs4242225	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869077	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57989047	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66525444	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851511	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830099	1.00[ASN][1000 genomes]
rs7448951	1.00[ASN][1000 genomes]
rs9313387	1.00[ASN][1000 genomes]
rs9313388	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167203600-167218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167205400-167212200	Weak transcription	HSMM	muscle
3	chr5:167205600-167210200	Weak transcription	HMEC	breast
4	chr5:167207600-167210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:167207600-167210400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:167207800-167209800	Weak transcription	Fetal Lung	lung
7	chr5:167209200-167210200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:167209400-167210800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:167209400-167214600	Enhancers	Primary monocytes fromperipheralblood	blood

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