Variant report

Variant	rs58814770
Chromosome Location	chr8:49167098-49167099
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12114205	1.00[EUR][1000 genomes]
rs12114564	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35437064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56229457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57834756	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6474094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49157200-49171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49165800-49167200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:49165800-49167800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:49165800-49168200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:49165800-49168600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:49166200-49173800	Weak transcription	Right Atrium	heart
7	chr8:49166400-49167200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:49166400-49167200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:49166400-49167600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:49166400-49168000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:49166400-49168200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:49166600-49167200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:49166600-49167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:49166600-49167800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:49166600-49168000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:49166600-49168600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:49166800-49168000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:49166800-49170600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:49166800-49171200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:49167000-49167200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:49167000-49167800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:49167000-49168200	Enhancers	HUES64 Cell Line	embryonic stem cell

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