Variant report

Variant	rs57398386
Chromosome Location	chr8:48401670-48401671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs56807775	0.87[AFR][1000 genomes]
rs57210767	1.00[AFR][1000 genomes]
rs57274985	0.95[AFR][1000 genomes]
rs57659543	0.95[AFR][1000 genomes]
rs58572522	0.87[AFR][1000 genomes]
rs58592579	0.89[AFR][1000 genomes]
rs58965290	0.82[AFR][1000 genomes]
rs59337594	0.83[AFR][1000 genomes]
rs59402950	0.89[AFR][1000 genomes]
rs59422998	0.89[AFR][1000 genomes]
rs60256648	1.00[AFR][1000 genomes]
rs61376238	1.00[AFR][1000 genomes]
rs73565212	0.92[AFR][1000 genomes]
rs73565216	0.82[AFR][1000 genomes]
rs73565219	0.89[AFR][1000 genomes]
rs73565220	0.89[AFR][1000 genomes]
rs73565225	0.89[AFR][1000 genomes]
rs73565226	0.89[AFR][1000 genomes]
rs73565235	0.95[AFR][1000 genomes]
rs73565236	0.92[AFR][1000 genomes]
rs73565244	0.92[AFR][1000 genomes]
rs73565247	0.95[AFR][1000 genomes]
rs73565254	1.00[AFR][1000 genomes]
rs73565260	0.92[AFR][1000 genomes]
rs73565271	0.95[AFR][1000 genomes]
rs73565273	1.00[AFR][1000 genomes]
rs73565275	1.00[AFR][1000 genomes]
rs73565280	0.92[AFR][1000 genomes]
rs73565297	0.92[AFR][1000 genomes]
rs73565299	0.87[AFR][1000 genomes]
rs73567507	0.89[AFR][1000 genomes]
rs73567511	0.89[AFR][1000 genomes]
rs73567579	0.83[AFR][1000 genomes]
rs73567593	0.87[AFR][1000 genomes]
rs73567594	0.89[AFR][1000 genomes]
rs73567596	0.89[AFR][1000 genomes]
rs73567597	0.89[AFR][1000 genomes]
rs73569205	0.89[AFR][1000 genomes]
rs73569208	0.87[AFR][1000 genomes]
rs73569212	0.89[AFR][1000 genomes]
rs73569216	0.89[AFR][1000 genomes]
rs73569220	0.89[AFR][1000 genomes]
rs73569223	0.87[AFR][1000 genomes]
rs73569224	0.87[AFR][1000 genomes]
rs73571453	0.89[AFR][1000 genomes]
rs73571454	0.87[AFR][1000 genomes]
rs73571459	0.89[AFR][1000 genomes]
rs73571460	0.89[AFR][1000 genomes]
rs73571462	0.89[AFR][1000 genomes]
rs73571467	0.89[AFR][1000 genomes]
rs73582860	0.92[AFR][1000 genomes]
rs73582867	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48392200-48403000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:48392600-48402000	Weak transcription	HepG2	liver
4	chr8:48392600-48402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:48393400-48410400	Weak transcription	Ovary	ovary
6	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
7	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
9	chr8:48397800-48403000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:48397800-48404200	Weak transcription	Lung	lung
11	chr8:48397800-48406200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:48397800-48406600	Weak transcription	Esophagus	oesophagus
13	chr8:48397800-48410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:48397800-48410600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:48397800-48417600	Weak transcription	Gastric	stomach
16	chr8:48397800-48418200	Weak transcription	Dnd41	blood
17	chr8:48398000-48407200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:48398200-48410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:48398200-48417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:48398400-48411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:48398400-48411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:48398600-48404600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:48398600-48407200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:48398800-48404200	Weak transcription	Fetal Lung	lung
28	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:48399000-48408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:48399000-48411200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:48401400-48417400	Weak transcription	Fetal Intestine Small	intestine

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