Variant report

Variant	rs11988784
Chromosome Location	chr8:115948750-115948751
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11990488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995805	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997498	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12680449	0.91[AFR][1000 genomes]
rs16886515	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16886706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16886735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16886785	0.91[AFR][1000 genomes]
rs2082977	1.00[AMR][1000 genomes]
rs56847277	1.00[AMR][1000 genomes]
rs58717597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7812553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611976	chr8:115261134-116223865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018280	chr8:115307838-116189192	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv539726	chr8:115307838-116189192	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv891372	chr8:115351857-116037119	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv891377	chr8:115395451-116110725	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv891395	chr8:115642536-116222842	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2754852	chr8:115803396-115958801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv891397	chr8:115810385-116129344	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115947800-115953000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:115947800-115953000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:115947800-115954200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:115948200-115951000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:115948400-115952800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:115948600-115949000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:115948600-115949200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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