Variant report

Variant	rs57689520
Chromosome Location	chr1:44937547-44937548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10890301	1.00[EUR][1000 genomes]
rs12072574	1.00[EUR][1000 genomes]
rs72895533	1.00[EUR][1000 genomes]
rs7515016	1.00[EUR][1000 genomes]
rs7543315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545656	1.00[EUR][1000 genomes]
rs7549585	1.00[EUR][1000 genomes]
rs7550326	1.00[EUR][1000 genomes]
rs9943206	1.00[EUR][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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv829715	chr1:44772309-44947790	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
7	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 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	chr1:44908800-44938400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:44926600-44938200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:44930600-44938000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:44930800-44937800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:44932800-44938200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:44935600-44937800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:44935800-44937800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:44935800-44937800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:44935800-44938000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:44936000-44937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:44936000-44937800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:44936000-44938000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:44936200-44937800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:44936400-44937800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr1:44936800-44937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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

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