Variant report

Variant	rs56692685
Chromosome Location	chr2:182012093-182012094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11688120	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11692430	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11692625	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11693055	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13011738	0.84[EUR][1000 genomes]
rs13025711	0.98[ASN][1000 genomes]
rs13026070	0.85[EUR][1000 genomes]
rs13029217	0.81[AMR][1000 genomes]
rs13031518	0.85[EUR][1000 genomes]
rs13033038	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34405919	0.85[AMR][1000 genomes]
rs34467063	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34504038	0.85[EUR][1000 genomes]
rs34700861	0.83[AMR][1000 genomes]
rs34774580	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34790351	0.81[AMR][1000 genomes]
rs34825850	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35076700	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35110674	0.81[AMR][1000 genomes]
rs35250663	0.83[AMR][1000 genomes]
rs35482602	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35598315	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35702511	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35725888	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4514840	0.85[AMR][1000 genomes]
rs56096261	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59395276	0.98[ASN][1000 genomes]
rs6716261	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6719732	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6724365	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6752921	0.83[AMR][1000 genomes]
rs72887083	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72888919	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7581267	0.90[AMR][1000 genomes];0.94[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:20 , 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	chr2:182009200-182013000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:182009400-182013800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:182009600-182013800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:182009800-182014200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:182009800-182016600	Weak transcription	Dnd41	blood
7	chr2:182010000-182012600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:182010000-182013000	Weak transcription	Thymus	Thymus
9	chr2:182010000-182013200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:182010000-182014400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:182010000-182015000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:182010600-182014600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:182010800-182015200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:182010800-182021000	Weak transcription	Fetal Thymus	thymus
15	chr2:182011200-182012400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:182011400-182013000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:182011400-182020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:182011600-182012600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:182011600-182012600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:182012000-182017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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