Variant report

Variant	rs59395276
Chromosome Location	chr2:182020696-182020697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11692430	0.89[ASN][1000 genomes]
rs11693055	0.95[ASN][1000 genomes]
rs11891215	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11893821	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12999974	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13025711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033467	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34601234	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34714467	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34774580	0.95[ASN][1000 genomes]
rs35049898	0.86[EUR][1000 genomes]
rs35323141	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35543145	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4432412	0.80[AMR][1000 genomes]
rs55664819	0.86[EUR][1000 genomes]
rs55900432	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55954384	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56169464	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56692685	0.98[ASN][1000 genomes]
rs62178846	0.86[EUR][1000 genomes]
rs6433892	0.84[EUR][1000 genomes]
rs6433895	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6706397	0.84[EUR][1000 genomes]
rs6706696	0.86[EUR][1000 genomes]
rs6710650	0.86[EUR][1000 genomes]
rs6711938	0.86[EUR][1000 genomes]
rs6713632	0.82[AMR][1000 genomes]
rs6716261	0.95[ASN][1000 genomes]
rs6719732	0.95[ASN][1000 genomes]
rs6746347	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6759865	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888919	0.95[ASN][1000 genomes]
rs7558428	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7566146	0.86[EUR][1000 genomes]
rs7566256	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7566434	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7569991	0.86[EUR][1000 genomes]
rs7580796	0.86[EUR][1000 genomes]
rs7592486	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7598960	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181999600-182022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182010800-182021000	Weak transcription	Fetal Thymus	thymus
3	chr2:182011400-182020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:182014400-182027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:182017800-182020800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:182017800-182020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:182018600-182020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:182020200-182021800	ZNF genes & repeats	Dnd41	blood

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