Variant report

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10879497	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157270	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203896	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278911	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278912	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	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	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs278899	YAF2	cis	parietal	SCAN
rs278899	CNTN1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41405200-41429800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:41405400-41417600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:41405600-41423000	Weak transcription	Ovary	ovary
4	chr12:41406200-41408000	Weak transcription	Fetal Lung	lung
5	chr12:41406600-41408400	Weak transcription	A549	lung
6	chr12:41406800-41407600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:41406800-41409000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:41407000-41425200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:41407200-41407600	Enhancers	HUVEC	blood vessel
10	chr12:41407400-41407600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:41407400-41408200	Enhancers	Fetal Stomach	stomach
12	chr12:41407400-41408600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:41407400-41408600	Enhancers	HSMMtube	muscle
14	chr12:41407400-41408800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:41407400-41408800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:41407400-41409000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:41407400-41409000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:41407400-41409000	Enhancers	NHEK	skin
19	chr12:41407400-41409200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:41407400-41409200	Enhancers	NH-A	brain

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