Variant report

Variant	rs11052223
Chromosome Location	chr12:32922006-32922007
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:17)

rs_ID	r²[population]
rs10771991	0.81[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs10771992	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10844342	1.00[ASN][1000 genomes]
rs10844343	0.81[ASN][1000 genomes]
rs11052229	0.81[ASN][1000 genomes]
rs12322504	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581082	0.81[ASN][1000 genomes]
rs2389106	1.00[ASN][1000 genomes]
rs2892684	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4931037	0.80[ASN][1000 genomes]
rs6488081	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs6488082	0.99[ASN][1000 genomes]
rs7133996	0.81[ASN][1000 genomes]
rs7297630	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297648	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs752369	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7967960	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1042661	chr12:32871860-32928833	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11052223	BCL11A	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32920400-32926000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:32921200-32922200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:32921600-32923200	Weak transcription	Fetal Intestine Small	intestine
4	chr12:32921600-32924800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:32921800-32922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:32921800-32926000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:32922000-32923200	Weak transcription	Small Intestine	intestine
8	chr12:32922000-32923600	Enhancers	Fetal Brain Male	brain
9	chr12:32922000-32923600	Enhancers	Fetal Lung	lung

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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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