Variant report

Variant	rs6726222
Chromosome Location	chr2:178946168-178946169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178936273..178939016-chr2:178945956..178948361,3	K562	blood:
2	chr2:178940677..178943272-chr2:178945277..178948244,4	K562	blood:
3	chr2:178940297..178942724-chr2:178946031..178947901,2	K562	blood:

Variant related genes	Relation type
ENSG00000128655	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10165089	1.00[JPT][hapmap]
rs10170607	1.00[JPT][hapmap]
rs10174910	1.00[JPT][hapmap]
rs10181377	1.00[JPT][hapmap]
rs10198877	1.00[JPT][hapmap]
rs10205083	1.00[JPT][hapmap]
rs10208501	1.00[JPT][hapmap]
rs10221783	1.00[JPT][hapmap]
rs10432485	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497475	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11894754	1.00[JPT][hapmap]
rs12996084	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13022619	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13411922	1.00[JPT][hapmap]
rs13428032	1.00[JPT][hapmap]
rs168009	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16866058	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16866088	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16866151	1.00[JPT][hapmap]
rs16866156	1.00[JPT][hapmap]
rs16866169	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17401468	1.00[JPT][hapmap]
rs17401650	1.00[JPT][hapmap]
rs1898012	1.00[JPT][hapmap]
rs7586240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv583739	chr2:178942302-178993562	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6726222	C1QTNF1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links