Variant report

Variant	rs289878
Chromosome Location	chr2:152048510-152048511
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152036783..152038759-chr2:152047666..152049204,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12623108	1.00[ASN][1000 genomes]
rs16829619	0.90[ASN][1000 genomes]
rs16829664	0.90[ASN][1000 genomes]
rs16829665	0.90[ASN][1000 genomes]
rs16829669	0.90[ASN][1000 genomes]
rs289841	0.88[ASN][1000 genomes]
rs289845	0.97[ASN][1000 genomes]
rs289855	0.97[ASN][1000 genomes]
rs289856	0.97[ASN][1000 genomes]
rs289857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs289859	0.94[ASN][1000 genomes]
rs289861	0.97[ASN][1000 genomes]
rs289863	1.00[ASN][1000 genomes]
rs289865	1.00[ASN][1000 genomes]
rs289867	1.00[ASN][1000 genomes]
rs289872	0.83[ASN][1000 genomes]
rs289873	0.83[ASN][1000 genomes]
rs289874	0.83[ASN][1000 genomes]
rs289875	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs289876	0.83[ASN][1000 genomes]
rs289879	0.97[ASN][1000 genomes]
rs289881	0.81[ASN][1000 genomes]
rs289884	0.81[ASN][1000 genomes]
rs289885	0.81[ASN][1000 genomes]
rs289888	0.81[ASN][1000 genomes]
rs289889	0.81[ASN][1000 genomes]
rs289890	0.81[ASN][1000 genomes]
rs289891	0.81[ASN][1000 genomes]
rs289917	0.81[ASN][1000 genomes]
rs289925	0.81[ASN][1000 genomes]
rs289926	0.81[ASN][1000 genomes]
rs289942	0.90[ASN][1000 genomes]
rs381768	1.00[ASN][1000 genomes]
rs383265	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs391852	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs400073	1.00[ASN][1000 genomes]
rs4664269	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4665029	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6433283	1.00[ASN][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	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152045400-152061600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:152047200-152050600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:152047400-152050000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:152047800-152048800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:152048000-152049200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:152048200-152048600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:152048200-152048600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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