Variant report

Variant	rs7830107
Chromosome Location	chr8:54814174-54814175
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54813329..54816016-chr8:54818127..54820294,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3824121	1.00[TSI][hapmap]
rs55665326	0.82[AMR][1000 genomes]
rs56137684	1.00[EUR][1000 genomes]
rs59612810	0.82[AMR][1000 genomes]
rs60106847	0.82[AMR][1000 genomes]
rs61654796	0.82[AMR][1000 genomes]
rs7012717	0.82[AMR][1000 genomes]
rs73587687	0.82[AMR][1000 genomes]
rs73587690	0.82[AMR][1000 genomes]
rs73589216	0.82[AMR][1000 genomes]
rs73589217	0.82[AMR][1000 genomes]
rs73680358	1.00[EUR][1000 genomes]
rs7842748	0.82[AMR][1000 genomes]
rs7842926	0.82[AMR][1000 genomes]
rs7843756	0.81[AMR][1000 genomes]
rs7844270	0.82[AMR][1000 genomes]
rs7846507	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7830107	RGS20	cis	lymphoblastoid	seeQTL
rs7830107	TSPAN18	trans	lymphoblastoid	seeQTL
rs7830107	CHI3L1	trans	lymphoblastoid	seeQTL
rs7830107	CD27	trans	lymphoblastoid	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54798400-54814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:54803400-54817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:54804000-54816000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:54807000-54816200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:54807800-54815800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:54808000-54816000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:54808800-54815000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:54809600-54818200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:54809800-54815200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:54810600-54816000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:54810600-54816400	Weak transcription	Brain Anterior Caudate	brain
12	chr8:54810800-54814600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:54811200-54815800	Weak transcription	HMEC	breast
14	chr8:54811600-54814200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:54811600-54815000	Strong transcription	NHEK	skin
16	chr8:54811800-54817200	Weak transcription	Fetal Brain Female	brain
17	chr8:54812600-54816000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:54813000-54814400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:54813000-54815400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:54813200-54814200	Enhancers	NHDF-Ad	bronchial
21	chr8:54813400-54814600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:54813400-54815800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:54813400-54816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:54813600-54814800	Enhancers	GM12878-XiMat	blood
25	chr8:54813600-54815800	Weak transcription	NHLF	lung
26	chr8:54814000-54815800	Strong transcription	A549	lung
27	chr8:54814000-54816000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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