Variant report

Variant	rs4349679
Chromosome Location	chr5:59627575-59627576
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59624456..59627842-chr5:59630040..59632479,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10461451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12054887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12653863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13165296	0.93[GIH][hapmap];0.95[TSI][hapmap]
rs13166747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13168480	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13171028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13172481	0.93[GIH][hapmap];0.95[TSI][hapmap]
rs1423246	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs16874969	0.93[GIH][hapmap];0.91[TSI][hapmap]
rs34038162	0.86[AFR][1000 genomes]
rs34353877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34762247	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35811820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35914313	0.88[AFR][1000 genomes]
rs36050835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4409049	0.87[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs4580739	0.83[GIH][hapmap]
rs4699954	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs56341652	0.88[AFR][1000 genomes]
rs57237852	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449466	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67522885	0.89[EUR][1000 genomes]
rs6860626	0.81[AFR][1000 genomes]
rs6861084	0.88[AFR][1000 genomes]
rs6862735	0.87[ASW][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs6869495	0.87[GIH][hapmap];0.86[TSI][hapmap]
rs6897671	1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs71630006	0.88[AFR][1000 genomes]
rs7711093	0.93[GIH][hapmap];0.95[TSI][hapmap]
rs7714394	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7733705	0.87[ASW][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs7735149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7737905	0.83[GIH][hapmap]

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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59620400-59629400	Weak transcription	Aorta	Aorta
2	chr5:59620400-59631000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:59625200-59646800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:59626200-59627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:59626200-59630000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:59626600-59635800	Weak transcription	Fetal Stomach	stomach
7	chr5:59626800-59629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:59627200-59630400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:59627400-59627800	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:59627400-59630000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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