Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10506181	0.84[AMR][1000 genomes]
rs11832384	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1372543	0.85[ASN][1000 genomes]
rs1442178	0.85[ASN][1000 genomes]
rs1442181	0.84[ASN][1000 genomes]
rs1442191	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1442194	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128925	0.89[CHD][hapmap];1.00[MEX][hapmap]
rs17128930	0.84[ASN][1000 genomes]
rs17128977	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17128987	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128997	0.84[AMR][1000 genomes]
rs2304818	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768325	0.85[ASN][1000 genomes]
rs55927654	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55994689	0.81[AMR][1000 genomes]
rs56333303	0.81[AMR][1000 genomes]
rs73111395	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73116958	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73116975	0.81[AMR][1000 genomes]
rs73116987	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:15 , 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	chr12:41318400-41341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:41318600-41334400	Weak transcription	Fetal Lung	lung
11	chr12:41321800-41344600	Weak transcription	Ovary	ovary
12	chr12:41322400-41336000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:41322600-41337800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:41323000-41327000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:41323200-41331000	Weak transcription	Brain Anterior Caudate	brain

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