Variant report

Variant	rs4922110
Chromosome Location	chr8:19714880-19714881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19709783..19712662-chr8:19713981..19716108,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10096561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11998681	0.94[EUR][1000 genomes]
rs2119693	0.83[ASN][1000 genomes]
rs6586871	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6586872	0.83[EUR][1000 genomes]
rs6586874	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv890631	chr8:19712564-19756813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19701800-19719400	Weak transcription	Fetal Heart	heart
2	chr8:19706600-19715000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:19706800-19715400	Weak transcription	HepG2	liver
4	chr8:19709400-19715200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:19710400-19715000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:19710400-19715000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:19710400-19715000	Weak transcription	Fetal Thymus	thymus
8	chr8:19710400-19715400	Weak transcription	Pancreas	Pancrea
9	chr8:19710400-19719600	Weak transcription	Adipose Nuclei	Adipose
10	chr8:19710600-19715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:19710600-19715200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19711400-19715800	Weak transcription	A549	lung
13	chr8:19711600-19715000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:19711800-19715200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:19712200-19715200	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:19712800-19715000	Weak transcription	Fetal Brain Male	brain
17	chr8:19714800-19715600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:19714800-19715600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:19714800-19715800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:19714800-19715800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr8:19714800-19716000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
22	chr8:19714800-19716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:19714800-19716000	Enhancers	HMEC	breast

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