Variant report

Variant	rs488212
Chromosome Location	chr11:106157404-106157405
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10750750	0.92[CEU][hapmap]
rs10895935	0.93[EUR][1000 genomes]
rs12273190	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12283696	0.83[EUR][1000 genomes]
rs12290323	0.92[EUR][1000 genomes]
rs12291279	0.83[EUR][1000 genomes]
rs12421469	0.92[EUR][1000 genomes]
rs12421840	0.92[EUR][1000 genomes]
rs1262373	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1268739	0.86[ASN][1000 genomes]
rs1508148	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1605565	0.91[EUR][1000 genomes]
rs1828126	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1893856	0.92[EUR][1000 genomes]
rs1944770	0.92[EUR][1000 genomes]
rs1955018	0.87[ASN][1000 genomes]
rs3018017	0.82[ASN][1000 genomes]
rs4614415	0.83[EUR][1000 genomes]
rs4755146	0.92[CEU][hapmap]
rs483873	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs485681	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs531851	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs542358	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs565672	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs594050	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs602407	0.92[CEU][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs613928	0.87[ASN][1000 genomes]
rs617143	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633534	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs657786	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs660647	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs667501	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs674799	0.92[CEU][hapmap];0.87[ASN][1000 genomes]
rs675319	0.86[ASN][1000 genomes]
rs687908	0.83[ASN][1000 genomes]
rs7120502	0.80[ASN][1000 genomes]
rs7127780	0.92[EUR][1000 genomes]
rs7131594	0.91[EUR][1000 genomes]
rs726349	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72985182	0.83[EUR][1000 genomes]
rs72987177	0.92[EUR][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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898358	chr11:105999580-106182251	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430428	chr11:106005901-106173046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2754854	chr11:106092790-106245790	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106152800-106157800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:106152800-106158800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:106157200-106157800	Enhancers	NHDF-Ad	bronchial
4	chr11:106157200-106158000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:106157400-106158600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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