Variant report

Variant	rs6458187
Chromosome Location	chr6:12299893-12299894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10947948	0.83[EUR][1000 genomes]
rs10947949	0.89[EUR][1000 genomes]
rs11753558	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12055484	0.89[EUR][1000 genomes]
rs4379286	0.86[EUR][1000 genomes]
rs4711655	0.87[ASN][1000 genomes]
rs4714383	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4714418	0.83[ASN][1000 genomes]
rs6458193	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6921790	0.82[ASN][1000 genomes]
rs6932390	0.86[EUR][1000 genomes]
rs9357346	0.87[EUR][1000 genomes]
rs9369262	0.87[EUR][1000 genomes]
rs9381015	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9381035	0.87[EUR][1000 genomes]
rs9394741	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6458187	RN7SKP293	cis	Artery Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12293000-12300000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
3	chr6:12297000-12300000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:12297000-12301000	Weak transcription	HSMMtube	muscle
5	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
6	chr6:12298200-12301000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:12298200-12301200	Weak transcription	Fetal Intestine Large	intestine
8	chr6:12298200-12302600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:12298200-12303200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:12298200-12305600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:12298400-12300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:12298400-12300600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:12298400-12300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:12298400-12301200	Genic enhancers	A549	lung
15	chr6:12298600-12300400	Weak transcription	HSMM	muscle
16	chr6:12298600-12301000	Weak transcription	NH-A	brain
17	chr6:12298600-12304000	Weak transcription	NHEK	skin
18	chr6:12299600-12300200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:12299600-12300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search:

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

what's new

Quick links