Variant report

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

rs_ID	r²[population]
rs10844358	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10844362	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10844365	0.85[JPT][hapmap]
rs10844367	0.81[CHD][hapmap]
rs11052236	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs11052247	0.85[JPT][hapmap]
rs11052249	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11052251	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11052261	0.81[CHB][hapmap]
rs11525539	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs11533495	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs11534764	0.84[JPT][hapmap]
rs11534765	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs12228193	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs12231019	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2389109	0.91[CHB][hapmap]
rs3789978	0.85[JPT][hapmap]
rs3850972	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs3907042	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4931038	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59748919	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7133291	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs7957613	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960291	0.85[JPT][hapmap]
rs7963034	0.82[ASN][1000 genomes]
rs7974049	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9988941	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9989018	0.81[CHB][hapmap];0.85[JPT][hapmap]

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	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
3	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
4	esv1851844	chr12:32929596-32953032	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32925000-32938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32929400-32937200	Weak transcription	NHEK	skin
3	chr12:32929400-32942200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:32929600-32941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:32929800-32941200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:32929800-32941600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:32931400-32942200	Weak transcription	Left Ventricle	heart
8	chr12:32932800-32935800	Weak transcription	Fetal Heart	heart
9	chr12:32933200-32944800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:32934000-32944000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32934200-32935800	Weak transcription	Fetal Lung	lung
12	chr12:32934200-32945200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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