Variant report

Variant	rs12652843
Chromosome Location	chr5:98078980-98078981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11242487	1.00[ASN][1000 genomes]
rs12656672	1.00[ASN][1000 genomes]
rs2277929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2545674	0.85[ASN][1000 genomes]
rs2545689	0.82[ASN][1000 genomes]
rs2547963	0.80[ASN][1000 genomes]
rs2662269	0.85[ASN][1000 genomes]
rs3849789	1.00[ASN][1000 genomes]
rs3849790	1.00[ASN][1000 genomes]
rs60106201	1.00[ASN][1000 genomes]
rs61202875	0.95[ASN][1000 genomes]
rs72773668	1.00[ASN][1000 genomes]
rs72773670	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032060	chr5:98022226-98093492	Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv537817	chr5:98022226-98093492	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12652843	RGMB	cis	normal skin	skin_eQTL
rs12652843	RGMB-AS1	cis	Adipose Subcutaneous	GTEx
rs12652843	RGMB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98076800-98090600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:98077800-98079000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:98078000-98079000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:98078000-98079000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:98078000-98079000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:98078200-98079000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:98078200-98079000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:98078400-98080400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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