Variant report

Variant	rs2022970
Chromosome Location	chr8:107410067-107410068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086335	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087368	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087505	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10087599	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087808	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108813	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11986170	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11993269	0.98[ASN][1000 genomes]
rs12674760	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678851	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678853	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678878	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678888	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1954752	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1954753	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1954754	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2022971	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022972	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022973	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2022974	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2022977	0.93[ASN][1000 genomes]
rs2022979	0.93[ASN][1000 genomes]
rs2154669	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186401	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2211924	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35628924	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4285457	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4308707	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4587301	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7824381	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1795740	chr8:107406143-107417676	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2022970	ABRA	cis	parietal	SCAN
rs2022970	KLF10	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107362400-107427000	Weak transcription	Aorta	Aorta
2	chr8:107404400-107447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:107405200-107410600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:107405400-107410200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:107409200-107411400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:107409400-107410200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:107409400-107411200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:107409400-107411200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:107409400-107411200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:107409400-107411200	Enhancers	NHDF-Ad	bronchial
11	chr8:107409800-107410400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:107409800-107411400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:107410000-107410400	Enhancers	HMEC	breast
14	chr8:107410000-107410800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:107410000-107410800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:107410000-107410800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:107410000-107411000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:107410000-107411000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:107410000-107411000	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:107410000-107411000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:107410000-107411000	Enhancers	HUVEC	blood vessel
22	chr8:107410000-107411200	Enhancers	NH-A	brain
23	chr8:107410000-107411200	Enhancers	Osteobl	bone
24	chr8:107410000-107411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:107410000-107411800	Enhancers	NHEK	skin

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