Variant report

Variant	rs11994516
Chromosome Location	chr8:85620711-85620712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088767	1.00[YRI][hapmap]
rs10095469	0.95[EUR][1000 genomes]
rs10101057	0.95[EUR][1000 genomes]
rs10103984	1.00[EUR][1000 genomes]
rs10106490	0.95[EUR][1000 genomes]
rs10107192	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10108862	0.95[EUR][1000 genomes]
rs10111461	0.95[EUR][1000 genomes]
rs10504806	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984578	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985257	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985284	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988419	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989935	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1488702	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16913052	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16913125	1.00[YRI][hapmap]
rs16913131	1.00[YRI][hapmap]
rs16913137	0.91[YRI][hapmap]
rs16913145	1.00[YRI][hapmap]
rs2029358	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377892	0.95[EUR][1000 genomes]
rs28410514	1.00[EUR][1000 genomes]
rs28615259	1.00[EUR][1000 genomes]
rs28682420	0.95[EUR][1000 genomes]
rs28690245	0.95[EUR][1000 genomes]
rs28701915	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28748272	1.00[EUR][1000 genomes]
rs28753755	1.00[EUR][1000 genomes]
rs28792691	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28838665	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35982821	0.89[EUR][1000 genomes]
rs7009141	1.00[EUR][1000 genomes]
rs73294048	1.00[EUR][1000 genomes]
rs73294082	1.00[EUR][1000 genomes]
rs73294084	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820782	0.95[EUR][1000 genomes]
rs7836966	1.00[YRI][hapmap]
rs965911	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv427823	chr8:85538522-86009068	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831376	chr8:85577422-85726311	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:85618200-85621200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:85620000-85620800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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