Variant report

Variant	rs11713172
Chromosome Location	chr3:42754505-42754506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42749483..42751308-chr3:42753064..42754909,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10461012	0.95[EUR][1000 genomes]
rs10865920	0.98[EUR][1000 genomes]
rs10865921	0.98[EUR][1000 genomes]
rs10865923	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11129969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11129970	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709054	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717346	0.90[JPT][hapmap]
rs11915803	0.89[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17074778	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs17238314	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238798	0.84[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs339664	0.90[JPT][hapmap]
rs339668	0.90[JPT][hapmap]
rs339676	0.90[JPT][hapmap]
rs34110933	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4682856	0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs4682857	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs4683336	0.83[CHB][hapmap]
rs55884426	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55904344	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59478814	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59713146	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60049195	0.98[EUR][1000 genomes]
rs60176972	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62246603	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246606	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62246635	0.87[EUR][1000 genomes]
rs62250113	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62250114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6442057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6764909	0.90[JPT][hapmap]
rs72865716	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9836162	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9837412	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9838388	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs9880635	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42747800-42760200	Weak transcription	Right Atrium	heart
2	chr3:42752800-42754800	Enhancers	Brain Angular Gyrus	brain
3	chr3:42752800-42754800	Enhancers	Brain Hippocampus Middle	brain
4	chr3:42752800-42754800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr3:42752800-42754800	Enhancers	Brain Substantia Nigra	brain
6	chr3:42753000-42754800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:42753000-42754800	Enhancers	Brain Anterior Caudate	brain
8	chr3:42753000-42754800	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:42753800-42754800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:42754000-42754600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:42754000-42755600	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:42754400-42760600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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