Variant report

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12451146	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1443264	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2165838	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4148010	0.83[TSI][hapmap]
rs4968823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968960	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4968961	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218530	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9893385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895870	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9896139	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9897551	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9898982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9914659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv575927	chr17:66787428-66817866	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7207042	ICAM2	cis	cerebellum	SCAN
rs7207042	ACE	cis	cerebellum	SCAN
rs7207042	CACNG1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66806000-66817200	Weak transcription	Ovary	ovary
2	chr17:66809800-66817000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:66811600-66816000	Enhancers	Fetal Muscle Leg	muscle
4	chr17:66811800-66817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:66812200-66817200	Weak transcription	Right Atrium	heart
6	chr17:66813400-66816200	Enhancers	HepG2	liver
7	chr17:66814400-66817200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:66814600-66817000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:66814600-66817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:66814800-66816600	Enhancers	Brain Cingulate Gyrus	brain
11	chr17:66814800-66817600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr17:66814800-66818600	Enhancers	Liver	Liver
13	chr17:66815000-66816200	Enhancers	Brain Substantia Nigra	brain
14	chr17:66815000-66817200	Weak transcription	NHDF-Ad	bronchial
15	chr17:66815000-66817600	Weak transcription	Fetal Lung	lung
16	chr17:66815000-66817800	Weak transcription	Adipose Nuclei	Adipose
17	chr17:66815200-66816800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:66815400-66817000	Enhancers	Brain Anterior Caudate	brain
19	chr17:66815600-66815800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:66815600-66816000	Enhancers	Brain Angular Gyrus	brain
21	chr17:66815600-66816000	Flanking Active TSS	Brain Hippocampus Middle	brain

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