Variant report

Variant	rs73751054
Chromosome Location	chr5:43210617-43210618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56341067	1.00[AFR][1000 genomes]
rs57269698	1.00[AFR][1000 genomes]
rs57576393	0.93[AFR][1000 genomes]
rs58723178	0.93[AFR][1000 genomes]
rs59534764	0.87[AFR][1000 genomes]
rs59951865	1.00[AFR][1000 genomes]
rs60608366	1.00[AFR][1000 genomes]
rs73751037	0.87[AFR][1000 genomes]
rs73751040	0.93[AFR][1000 genomes]
rs73751043	0.93[AFR][1000 genomes]
rs73751048	1.00[AFR][1000 genomes]
rs73751049	0.87[AFR][1000 genomes]
rs73751055	1.00[AFR][1000 genomes]
rs73751056	1.00[AFR][1000 genomes]
rs73751057	1.00[AFR][1000 genomes]
rs73751058	1.00[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	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43205200-43211000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:43205600-43215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:43208000-43214200	Enhancers	Placenta	Placenta
5	chr5:43208800-43210800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:43208800-43211600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:43208800-43212000	Enhancers	K562	blood
8	chr5:43209000-43215000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:43209400-43218600	Weak transcription	Brain Anterior Caudate	brain
10	chr5:43209600-43215400	Weak transcription	Brain Substantia Nigra	brain
11	chr5:43209600-43218600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:43209600-43218600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:43209600-43221400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:43210600-43210800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:43210600-43210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:43210600-43211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:43210600-43211000	Enhancers	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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