Variant report

Variant	rs58158418
Chromosome Location	chr12:9768549-9768550
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16907843	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16934974	1.00[EUR][1000 genomes]
rs2109901	1.00[EUR][1000 genomes]
rs2109902	1.00[EUR][1000 genomes]
rs2109903	1.00[EUR][1000 genomes]
rs2159780	1.00[EUR][1000 genomes]
rs2374768	1.00[EUR][1000 genomes]
rs55739026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55760671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55798034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58539496	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59193482	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488028	1.00[EUR][1000 genomes]
rs74062896	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74062898	1.00[EUR][1000 genomes]
rs74062901	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065308	1.00[AMR][1000 genomes];1.00[EUR][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	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9755800-9771200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:9759200-9771200	Weak transcription	Fetal Lung	lung
3	chr12:9764200-9777000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:9766400-9769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:9767400-9768600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:9767400-9770600	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:9767600-9769000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:9767600-9769000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr12:9767600-9769000	Flanking Active TSS	Dnd41	blood
10	chr12:9767600-9769400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:9767600-9770000	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:9767800-9768600	Active TSS	Primary T cells fromperipheralblood	blood
13	chr12:9767800-9768600	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:9767800-9768800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:9767800-9769000	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr12:9768000-9768600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:9768200-9768600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr12:9768200-9768600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr12:9768200-9768800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:9768200-9768800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr12:9768200-9768800	Active TSS	Fetal Thymus	thymus
22	chr12:9768200-9769000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:9768400-9768600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:9768400-9768600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:9768400-9768600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:9768400-9768600	Flanking Active TSS	Thymus	Thymus
27	chr12:9768400-9768800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:9768400-9769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:9768400-9770400	Enhancers	Primary B cells from cord blood	blood
30	chr12:9768400-9772200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:9768400-9772200	Weak transcription	Monocytes-CD14+_RO01746	blood

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