Variant report

Variant	rs73751049
Chromosome Location	chr5:43197987-43197988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56341067	0.87[AFR][1000 genomes]
rs57269698	0.87[AFR][1000 genomes]
rs57576393	0.81[AFR][1000 genomes]
rs58723178	0.81[AFR][1000 genomes]
rs59534764	0.88[AFR][1000 genomes]
rs59951865	0.87[AFR][1000 genomes]
rs60608366	0.87[AFR][1000 genomes]
rs73751040	0.81[AFR][1000 genomes]
rs73751043	0.81[AFR][1000 genomes]
rs73751048	0.87[AFR][1000 genomes]
rs73751054	0.87[AFR][1000 genomes]
rs73751055	0.87[AFR][1000 genomes]
rs73751056	0.87[AFR][1000 genomes]
rs73751057	0.87[AFR][1000 genomes]
rs73751058	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43195000-43203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:43196000-43199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43196200-43208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:43196400-43200600	Weak transcription	GM12878-XiMat	blood
7	chr5:43196400-43205000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:43196400-43208800	Weak transcription	Brain Angular Gyrus	brain
9	chr5:43196400-43208800	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:43196400-43208800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:43196400-43209200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:43197000-43198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:43197200-43198000	Enhancers	HMEC	breast
14	chr5:43197200-43198200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:43197600-43198200	Flanking Active TSS	K562	blood
16	chr5:43197600-43198200	Enhancers	NHEK	skin
17	chr5:43197800-43198000	Enhancers	Brain Anterior Caudate	brain
18	chr5:43197800-43198200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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