Variant report

Variant	rs62169373
Chromosome Location	chr2:152250257-152250258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152249560..152254860-chr2:152265283..152268679,5	K562	blood:
2	chr2:152245246..152248837-chr2:152249533..152253937,5	K562	blood:
3	chr2:152249246..152251091-chr2:152252378..152254799,2	K562	blood:
4	chr2:152245246..152248837-chr2:152249533..152253831,3	K562	blood:

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11896481	0.86[ASN][1000 genomes]
rs16830019	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16830036	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs16830047	0.80[ASN][1000 genomes]
rs16830061	0.81[ASN][1000 genomes]
rs16830067	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16830086	0.81[ASN][1000 genomes]
rs1993206	0.87[AFR][1000 genomes]
rs4468813	0.81[ASN][1000 genomes]
rs4491723	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4494741	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs55654831	0.84[ASN][1000 genomes]
rs55900984	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56898485	0.81[ASN][1000 genomes]
rs62169374	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62169378	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62169380	0.87[ASN][1000 genomes]
rs62169382	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62169384	0.81[ASN][1000 genomes]
rs62169385	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6726640	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6733645	0.81[ASN][1000 genomes]
rs6742953	0.81[ASN][1000 genomes]
rs72860229	0.87[ASN][1000 genomes]
rs72860230	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72860235	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72860236	0.86[ASN][1000 genomes]
rs7422009	0.80[ASN][1000 genomes]
rs7593710	0.90[ASN][1000 genomes]
rs7598855	0.88[EUR][1000 genomes];0.83[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	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
2	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
3	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
4	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
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152239200-152264800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:152249200-152253200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:152249400-152252000	Weak transcription	K562	blood

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