Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10506178	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10506180	0.82[EUR][1000 genomes]
rs10879397	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11179021	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11179132	0.89[EUR][1000 genomes]
rs11179176	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11179281	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11179347	0.82[EUR][1000 genomes]
rs11179395	0.81[EUR][1000 genomes]
rs11611881	0.88[EUR][1000 genomes]
rs12423199	0.85[AMR][1000 genomes]
rs1388670	0.82[EUR][1000 genomes]
rs1442179	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1442180	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17552679	0.88[EUR][1000 genomes]
rs2304819	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58546041	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7305600	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7305733	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7308370	0.81[EUR][1000 genomes]
rs7311590	0.82[EUR][1000 genomes]
rs935103	0.88[EUR][1000 genomes];0.81[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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv826346	chr12:41313148-41374833	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41297200-41338600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:41297400-41328600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:41297400-41338600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:41305800-41336200	Weak transcription	NHEK	skin
6	chr12:41313400-41338400	Weak transcription	A549	lung
7	chr12:41316400-41327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:41317800-41356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:41318200-41322200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:41318400-41341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:41318600-41334400	Weak transcription	Fetal Lung	lung
12	chr12:41320000-41324400	Weak transcription	Fetal Brain Male	brain

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