Variant report

Variant	rs4714418
Chromosome Location	chr6:12320562-12320563
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10947948	0.81[AMR][1000 genomes]
rs10947949	0.82[AMR][1000 genomes]
rs11753558	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12055484	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17765653	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4379286	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4711654	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4711655	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6458187	0.83[ASN][1000 genomes]
rs6458193	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6921790	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6932390	0.81[EUR][1000 genomes]
rs9357346	0.81[EUR][1000 genomes]
rs9369262	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9381015	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9381033	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9381035	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9394741	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4714418	EDN1	Cis_1M	lymphoblastoid	RTeQTL
rs4714418	RN7SKP293	cis	Artery Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12315200-12327800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:12319200-12324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:12319400-12324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:12319400-12324400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:12319400-12324400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:12319400-12325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:12319600-12324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:12319800-12324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:12320000-12321200	Weak transcription	A549	lung
10	chr6:12320000-12324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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