Variant report

Variant	rs2911499
Chromosome Location	chr5:167210684-167210685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10045595	0.84[CEU][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs10454960	0.84[CEU][hapmap];0.84[LWK][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs10516038	0.88[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11134472	0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11738000	0.96[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11750131	0.88[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12651802	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12657288	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13166995	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13436455	0.84[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs1364368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421990	0.84[JPT][hapmap]
rs1834118	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2018599	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2337000	0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs2973664	0.87[ASW][hapmap];0.91[CEU][hapmap];0.81[GIH][hapmap];0.85[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2973667	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4270713	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4479863	0.87[TSI][hapmap]
rs4583906	0.81[AMR][1000 genomes]
rs4624810	0.87[CEU][hapmap]
rs6861976	0.86[EUR][1000 genomes]
rs6862936	0.84[TSI][hapmap]
rs6863601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6879227	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6891311	0.87[TSI][hapmap]
rs6898256	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703401	0.83[CEU][hapmap];0.81[AMR][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:13 , 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	chr5:167209400-167210800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:167209400-167214600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:167209800-167211600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:167210000-167211000	Enhancers	Fetal Muscle Leg	muscle
7	chr5:167210200-167211000	Enhancers	HMEC	breast
8	chr5:167210200-167211000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:167210400-167210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:167210400-167210800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:167210400-167210800	Flanking Active TSS	Fetal Lung	lung
12	chr5:167210400-167211600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:167210400-167212800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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