Variant report

Variant	rs28542855
Chromosome Location	chr8:48539790-48539791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10092880	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095193	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10107723	0.98[EUR][1000 genomes]
rs10958274	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1487438	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28795698	0.83[AFR][1000 genomes]
rs28809491	0.84[AFR][1000 genomes]
rs3614	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58297550	0.90[AMR][1000 genomes]
rs6992255	0.86[EUR][1000 genomes]
rs7017622	0.81[AFR][1000 genomes]
rs72646358	0.86[EUR][1000 genomes]
rs72646361	0.90[EUR][1000 genomes]
rs72646363	0.84[EUR][1000 genomes]
rs72646372	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72646383	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs729228	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7812323	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7822320	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7828380	0.86[AFR][1000 genomes]
rs7830350	0.85[AFR][1000 genomes]
rs7841661	0.86[AMR][1000 genomes]
rs7843066	0.94[AMR][1000 genomes];0.88[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	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	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
4	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
2	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:48515800-48540200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:48517800-48540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:48523200-48540000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:48523200-48545400	Weak transcription	Spleen	Spleen
8	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:48524000-48540200	Weak transcription	Fetal Stomach	stomach
10	chr8:48524200-48540200	Weak transcription	Right Atrium	heart
11	chr8:48525000-48544000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:48525400-48540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:48532200-48540200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48532200-48540200	Weak transcription	Right Ventricle	heart
16	chr8:48532200-48543000	Weak transcription	Psoas Muscle	Psoas
17	chr8:48532400-48540200	Weak transcription	Left Ventricle	heart
18	chr8:48532600-48540000	Weak transcription	HSMMtube	muscle
19	chr8:48532600-48540200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:48532600-48540200	Weak transcription	Fetal Lung	lung
21	chr8:48532800-48540000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:48534200-48540000	Weak transcription	Osteobl	bone
23	chr8:48534600-48540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:48534800-48540000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:48534800-48540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:48535000-48540000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:48535200-48540200	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:48535200-48542600	Weak transcription	Fetal Intestine Large	intestine
29	chr8:48535200-48547200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:48535600-48540200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:48535600-48554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:48535800-48540000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:48535800-48554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:48536600-48540400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:48537600-48540000	Weak transcription	HSMM	muscle
36	chr8:48538400-48540200	Weak transcription	Lung	lung

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