Variant report

Variant	rs28626552
Chromosome Location	chr8:11356824-11356825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10089316	1.00[AMR][1000 genomes]
rs10113720	1.00[EUR][1000 genomes]
rs13439390	1.00[EUR][1000 genomes]
rs2618464	1.00[EUR][1000 genomes]
rs2618465	1.00[EUR][1000 genomes]
rs28443174	1.00[AMR][1000 genomes]
rs28535691	1.00[AFR][1000 genomes]
rs28616741	1.00[EUR][1000 genomes]
rs28619169	1.00[AMR][1000 genomes]
rs28624219	1.00[AMR][1000 genomes]
rs28658025	1.00[AMR][1000 genomes]
rs28661309	1.00[EUR][1000 genomes]
rs57289063	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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11352200-11360400	Weak transcription	Spleen	Spleen
2	chr8:11352800-11357600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:11353200-11361000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:11353400-11357200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
5	chr8:11353400-11367200	Enhancers	Fetal Thymus	thymus
6	chr8:11353800-11357800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:11354000-11357200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:11354000-11357200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:11354000-11357200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:11354000-11357600	Enhancers	Thymus	Thymus
11	chr8:11354200-11357200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:11354200-11357400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr8:11354400-11357200	Weak transcription	NHLF	lung
14	chr8:11354400-11357400	Enhancers	Primary T cells from cord blood	blood
15	chr8:11354400-11357400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:11354400-11357400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:11354400-11357600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:11355400-11357000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:11355400-11357000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:11355800-11359200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:11356000-11357800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:11356000-11357800	Flanking Active TSS	GM12878-XiMat	blood
23	chr8:11356200-11357400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
24	chr8:11356400-11357400	Enhancers	HSMM	muscle
25	chr8:11356400-11357600	Enhancers	NHEK	skin
26	chr8:11356400-11358000	Enhancers	Osteobl	bone
27	chr8:11356600-11357000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:11356600-11357400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:11356600-11357400	Enhancers	Colon Smooth Muscle	Colon
30	chr8:11356600-11357400	Enhancers	HSMMtube	muscle
31	chr8:11356600-11357600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:11356600-11357800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:11356600-11357800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:11356600-11357800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:11356600-11357800	Enhancers	NHDF-Ad	bronchial
36	chr8:11356800-11357000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:11356800-11357000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:11356800-11357200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr8:11356800-11357600	Enhancers	NH-A	brain
40	chr8:11356800-11357800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:11356800-11358800	Enhancers	Dnd41	blood
42	chr8:11356800-11359200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:11356800-11361200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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