Variant report

Variant	rs2252458
Chromosome Location	chr10:43836962-43836963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2090742	1.00[AMR][1000 genomes]
rs2249000	1.00[AMR][1000 genomes]
rs2249345	0.94[AFR][1000 genomes]
rs2251787	1.00[AMR][1000 genomes]
rs2418930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460560	1.00[AMR][1000 genomes]
rs2460564	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2493662	1.00[AMR][1000 genomes]
rs2493664	1.00[AMR][1000 genomes]
rs7100978	1.00[AMR][1000 genomes]
rs7923134	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	esv3444858	chr10:43836470-43837485	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 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	chr10:43828800-43839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:43828800-43839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:43835200-43837800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43835600-43837000	Enhancers	Stomach Mucosa	stomach
5	chr10:43835800-43837000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:43835800-43837000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:43836400-43837800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:43836600-43837400	Enhancers	A549	lung
9	chr10:43836600-43838000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:43836600-43839400	Weak transcription	Hela-S3	cervix
11	chr10:43836600-43839800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:43836600-43846000	Weak transcription	Right Atrium	heart
13	chr10:43836800-43839400	Weak transcription	NHEK	skin
14	chr10:43836800-43839600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:43836800-43843400	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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