Variant report

Variant	rs2712229
Chromosome Location	chr7:107295326-107295327
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107294330..107297036-chr7:107298292..107302159,4	K562	blood:
2	chr7:107294866..107296754-chr7:107299515..107301756,2	K562	blood:

Variant related genes	Relation type
ENSG00000233705	Chromatin interaction
ENSG00000091137	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10237948	0.89[EUR][1000 genomes]
rs10258385	0.87[EUR][1000 genomes]
rs10273733	0.93[EUR][1000 genomes]
rs10274041	0.93[EUR][1000 genomes]
rs10276604	0.83[EUR][1000 genomes]
rs10281535	0.83[EUR][1000 genomes]
rs11771278	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13228252	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1468336	0.83[EUR][1000 genomes]
rs2057837	0.82[EUR][1000 genomes]
rs2107713	0.87[EUR][1000 genomes]
rs2178497	0.94[EUR][1000 genomes]
rs2189839	0.83[EUR][1000 genomes]
rs2237677	0.81[EUR][1000 genomes]
rs2248465	0.96[ASN][1000 genomes]
rs2253146	0.81[EUR][1000 genomes]
rs2253269	0.81[EUR][1000 genomes]
rs2253271	0.81[EUR][1000 genomes]
rs2293658	0.95[EUR][1000 genomes]
rs2395907	0.93[EUR][1000 genomes]
rs2701678	0.97[ASN][1000 genomes]
rs2701679	0.97[ASN][1000 genomes]
rs2701684	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2701685	0.96[ASN][1000 genomes]
rs2712227	0.93[ASN][1000 genomes]
rs2712228	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808	0.93[EUR][1000 genomes]
rs2894466	0.87[EUR][1000 genomes]
rs2894475	0.93[EUR][1000 genomes]
rs3779494	0.91[EUR][1000 genomes]
rs3801944	0.93[EUR][1000 genomes]
rs3801948	0.87[EUR][1000 genomes]
rs4330613	0.80[ASN][1000 genomes]
rs4727684	0.83[EUR][1000 genomes]
rs6976607	0.83[EUR][1000 genomes]
rs7778250	0.83[EUR][1000 genomes]
rs7778270	0.81[EUR][1000 genomes]
rs7793613	0.91[EUR][1000 genomes]
rs7803102	0.89[EUR][1000 genomes]
rs7806835	0.84[EUR][1000 genomes]
rs7809950	0.84[EUR][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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2712229	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

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

No data

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

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