Variant report

Variant	rs7592486
Chromosome Location	chr2:182013263-182013264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11684463	0.80[EUR][1000 genomes]
rs11891215	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11893821	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12999974	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13011751	0.96[ASN][1000 genomes]
rs13012524	0.93[ASN][1000 genomes]
rs13020845	0.93[ASN][1000 genomes]
rs13025711	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13033467	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34601234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34714467	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35049898	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35323141	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35543145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4432412	0.80[EUR][1000 genomes]
rs55664819	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55900432	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55954384	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56169464	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59395276	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62178846	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433892	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433895	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6706397	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706696	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710650	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711938	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6713632	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6746347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759865	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7558428	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566146	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7566256	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7566434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569991	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7580796	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7598960	0.92[AMR][1000 genomes];1.00[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	chr2:182009400-182013800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:182009600-182013800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:182009800-182014200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:182009800-182016600	Weak transcription	Dnd41	blood
6	chr2:182010000-182014400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:182010000-182015000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:182010600-182014600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:182010800-182015200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:182010800-182021000	Weak transcription	Fetal Thymus	thymus
11	chr2:182011400-182020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:182012000-182017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:182012400-182014400	Enhancers	Primary T cells from cord blood	blood
14	chr2:182012600-182014200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:182012600-182014400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:182012600-182014600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:182013000-182014200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:182013000-182014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:182013200-182014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:182013200-182014600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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