Variant report

Variant	rs55852968
Chromosome Location	chr8:100420216-100420217
allele	A/C
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:3)

rs_ID	r²[population]
rs58391202	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61051369	0.80[AMR][1000 genomes]
rs6995743	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
17	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
19	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
20	nsv1015966	chr8:100387076-100481107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
22	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
23	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100384400-100437600	Weak transcription	Lung	lung
2	chr8:100386000-100428800	Weak transcription	Esophagus	oesophagus
3	chr8:100390000-100421200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:100390400-100421200	Weak transcription	Aorta	Aorta
5	chr8:100391000-100428000	Weak transcription	Pancreas	Pancrea
6	chr8:100391400-100430200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:100395400-100432600	Weak transcription	Psoas Muscle	Psoas
9	chr8:100395600-100421000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:100396200-100430000	Weak transcription	HSMMtube	muscle
11	chr8:100397000-100420800	Weak transcription	Adipose Nuclei	Adipose
12	chr8:100397200-100420400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:100397400-100424000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:100397800-100445000	Weak transcription	HSMM	muscle
15	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
17	chr8:100403200-100424600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:100404400-100420400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:100404400-100420600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:100404400-100420600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:100404400-100420800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:100404400-100421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:100404400-100424600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:100404400-100427600	Weak transcription	Dnd41	blood
25	chr8:100404400-100427800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:100404400-100428800	Weak transcription	Left Ventricle	heart
27	chr8:100404400-100430800	Weak transcription	Ovary	ovary
28	chr8:100404400-100441800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:100404400-100444600	Weak transcription	Placenta	Placenta
30	chr8:100404600-100423600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:100404800-100424800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:100409000-100423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:100410400-100422400	Weak transcription	Primary B cells from cord blood	blood
34	chr8:100410800-100423800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:100415200-100421200	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:100416200-100420600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:100416200-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:100416400-100423800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:100417200-100420400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:100417200-100420800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:100417800-100420800	Weak transcription	NHDF-Ad	bronchial
42	chr8:100418000-100421000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:100418600-100420800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:100419200-100423400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:100419400-100420400	Weak transcription	Primary T cells from cord blood	blood
46	chr8:100419600-100423200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:100419600-100463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:100420000-100420400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:100420200-100420400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr8:100420200-100420400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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