Variant report

Variant	rs6867388
Chromosome Location	chr5:124269228-124269229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10072144	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11241778	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4240382	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4441871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4458563	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4515296	0.95[EUR][1000 genomes]
rs4530753	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4596380	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4836126	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836128	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595560	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6595563	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6871433	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6889956	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7701121	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7707774	0.83[ASN][1000 genomes]
rs7735284	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8180492	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6867388	ZNF608	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124259200-124270800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:124259600-124270400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:124264000-124271400	Weak transcription	HSMM	muscle
4	chr5:124268200-124269400	Enhancers	Colon Smooth Muscle	Colon
5	chr5:124268600-124269600	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:124269000-124271600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:124269000-124271600	Weak transcription	HMEC	breast
8	chr5:124269200-124270600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:124269200-124270800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:124269200-124270800	Weak transcription	Pancreas	Pancrea
11	chr5:124269200-124270800	Weak transcription	NH-A	brain
12	chr5:124269200-124271200	Weak transcription	Right Atrium	heart
13	chr5:124269200-124271600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:124269200-124271600	Weak transcription	NHEK	skin

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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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