Variant report

Variant	rs11126095
Chromosome Location	chr2:66955903-66955904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10206488	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10490191	0.81[ASN][1000 genomes]
rs10490192	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865357	0.81[ASN][1000 genomes]
rs11126092	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11126094	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622301	0.84[ASN][1000 genomes]
rs13000124	0.84[ASN][1000 genomes]
rs13008140	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13034450	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34468743	0.87[EUR][1000 genomes]
rs35028770	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705424	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs6719120	0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs7600609	0.88[EUR][1000 genomes];0.80[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	nsv834248	chr2:66756873-66970378	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012523	chr2:66919704-66961372	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv582169	chr2:66936494-66959919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1009027	chr2:66947462-67114455	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11126095	AAK1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66952000-66960400	Weak transcription	Fetal Kidney	kidney
2	chr2:66955600-66956000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:66955600-66956200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:66955600-66956200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:66955800-66956200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:66955800-66956800	Enhancers	Fetal Lung	lung
7	chr2:66955800-66957400	Enhancers	Fetal Stomach	stomach
8	chr2:66955800-66957800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	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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