Variant report

Variant	rs7825034
Chromosome Location	chr8:127859109-127859110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10956331	0.94[EUR][1000 genomes]
rs10956332	0.95[EUR][1000 genomes]
rs10956333	0.90[EUR][1000 genomes]
rs11779539	0.95[EUR][1000 genomes]
rs1400462	0.95[EUR][1000 genomes]
rs16901792	0.95[EUR][1000 genomes]
rs1972123	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1973699	0.94[EUR][1000 genomes]
rs2893579	0.95[EUR][1000 genomes]
rs4870987	0.95[EUR][1000 genomes]
rs4870989	0.95[EUR][1000 genomes]
rs4870990	0.95[EUR][1000 genomes]
rs4871743	0.82[CEU][hapmap]
rs6993010	0.95[EUR][1000 genomes]
rs7818682	0.90[EUR][1000 genomes]
rs7828801	0.95[EUR][1000 genomes]
rs7833497	0.95[EUR][1000 genomes]
rs7839993	0.95[EUR][1000 genomes]
rs8180916	0.85[ASN][1000 genomes]
rs902126	0.85[EUR][1000 genomes]
rs979963	0.95[EUR][1000 genomes]
rs979964	0.95[EUR][1000 genomes]
rs979965	0.96[EUR][1000 genomes]
rs979966	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7825034	POU5F1B	cis	cerebellum	SCAN
rs7825034	FAM49B	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:127857000-127859600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:127857400-127862000	Weak transcription	Fetal Kidney	kidney
4	chr8:127857600-127859200	Weak transcription	Psoas Muscle	Psoas
5	chr8:127857600-127859200	Enhancers	NHEK	skin
6	chr8:127857600-127861400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:127857800-127859800	Enhancers	HSMMtube	muscle
8	chr8:127857800-127860200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:127858000-127860200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:127858000-127860200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:127858000-127866400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:127858200-127859400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:127858400-127859600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:127858400-127861000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:127858600-127860000	Weak transcription	HMEC	breast
16	chr8:127858600-127861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:127858600-127869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:127859000-127859200	Enhancers	Fetal Heart	heart
19	chr8:127859000-127859400	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:127859000-127860000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:127859000-127860200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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