Variant report

Variant	rs11957319
Chromosome Location	chr5:126806982-126806983
allele	A/G
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:26)

rs_ID	r²[population]
rs11950816	0.83[YRI][hapmap]
rs11956397	0.87[AMR][1000 genomes]
rs17164905	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164911	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17164925	1.00[ASW][hapmap];0.87[LWK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164941	0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17164956	0.87[AMR][1000 genomes]
rs17164963	0.87[AMR][1000 genomes]
rs2408871	0.87[YRI][hapmap]
rs55851028	0.87[AMR][1000 genomes]
rs56853109	0.87[AMR][1000 genomes]
rs57502023	0.87[AMR][1000 genomes]
rs58718502	0.87[AMR][1000 genomes]
rs59739975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60678437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60694077	0.87[AMR][1000 genomes]
rs60931267	0.87[AMR][1000 genomes]
rs61021426	0.87[AMR][1000 genomes]
rs61031224	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73331252	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346997	0.87[AMR][1000 genomes]
rs73348707	0.87[AMR][1000 genomes]
rs73348729	0.87[AMR][1000 genomes]
rs73348755	0.87[AMR][1000 genomes]
rs73348768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348777	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126806800-126807200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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