Variant report

Variant	rs785134
Chromosome Location	chr6:114636850-114636851
allele	A/G
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:15)

rs_ID	r²[population]
rs1856117	0.89[AFR][1000 genomes]
rs2786206	0.91[AFR][1000 genomes]
rs57078191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57397327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60233932	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6900066	0.92[YRI][hapmap]
rs6900177	1.00[AMR][1000 genomes]
rs73767409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs785128	1.00[AMR][1000 genomes]
rs785140	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs785141	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs945786	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9488372	0.89[AFR][1000 genomes]
rs9488377	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	esv34434	chr6:114465305-115462799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv464024	chr6:114489321-114837181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv604544	chr6:114489321-114837181	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3692910	chr6:114597419-115480580	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv528128	chr6:114597657-115471129	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv818451	chr6:114597657-115471129	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114627200-114637000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:114635000-114637800	Enhancers	Brain Hippocampus Middle	brain
3	chr6:114635200-114637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:114635200-114637800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:114635400-114637200	Enhancers	Brain Cingulate Gyrus	brain
6	chr6:114635400-114637200	Enhancers	Brain Substantia Nigra	brain
7	chr6:114635600-114637200	Enhancers	Colon Smooth Muscle	Colon
8	chr6:114636000-114637600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:114636000-114637800	Enhancers	Brain Angular Gyrus	brain
10	chr6:114636200-114637800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:114636400-114637200	Enhancers	Brain Anterior Caudate	brain
12	chr6:114636800-114637200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:114636800-114637600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:114636800-114638000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:114636800-114640800	Enhancers	HUES48 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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