Variant report

Variant	rs12226617
Chromosome Location	chr11:57837745-57837746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10750878	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10750879	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10750880	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10750881	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792131	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10792132	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10792133	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896696	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1123307	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11823591	0.81[EUR][1000 genomes]
rs12363350	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1868043	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2003375	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2167358	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2441977	0.82[EUR][1000 genomes]
rs2513728	0.81[EUR][1000 genomes]
rs2514199	0.81[EUR][1000 genomes]
rs4939175	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4939176	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7117613	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7117711	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118536	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952724	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896300	0.81[EUR][1000 genomes]
rs976429	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs976430	0.95[EUR][1000 genomes];0.88[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57826400-57838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:57826400-57845200	Weak transcription	Pancreas	Pancrea
3	chr11:57834400-57837800	Weak transcription	HepG2	liver
4	chr11:57835400-57839200	Weak transcription	Right Ventricle	heart
5	chr11:57835600-57838200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:57836600-57840000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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