Variant report

Variant	rs12942599
Chromosome Location	chr17:66981486-66981487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11077858	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11077859	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11077860	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11077884	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11453	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871766	0.80[AMR][1000 genomes]
rs12939564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940103	0.81[EUR][1000 genomes]
rs12943969	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1541470	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973495	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2191212	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2191213	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302292	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302293	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302294	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36096265	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4548939	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968983	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7207125	0.90[ASN][1000 genomes]
rs7218871	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8068236	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8070357	0.88[ASN][1000 genomes]
rs9894490	0.90[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	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	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66965600-66986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:66969200-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:66970800-66984000	Weak transcription	Spleen	Spleen
4	chr17:66971000-66987800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr17:66972600-66981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:66977200-66982800	Strong transcription	Ovary	ovary
7	chr17:66977400-66981600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:66977400-66984200	Weak transcription	Gastric	stomach
9	chr17:66977400-66989400	Weak transcription	Pancreas	Pancrea
10	chr17:66977600-67001400	Weak transcription	Fetal Lung	lung
11	chr17:66977800-66984000	Weak transcription	HepG2	liver
12	chr17:66977800-66987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:66977800-66991000	Weak transcription	Fetal Stomach	stomach
14	chr17:66977800-66991600	Strong transcription	Adipose Nuclei	Adipose
15	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr17:66978600-66987200	Weak transcription	NHDF-Ad	bronchial
17	chr17:66978600-66988000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:66978600-66989400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:66979400-67005400	Weak transcription	Psoas Muscle	Psoas
20	chr17:66979600-67001200	Weak transcription	Left Ventricle	heart
21	chr17:66980000-66982600	Weak transcription	Lung	lung
22	chr17:66980400-67009400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:66981200-66983600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr17:66981400-66982600	Weak transcription	Liver	Liver
25	chr17:66981400-66983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:66981400-67001200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr17:66981400-67001400	Weak transcription	Fetal Muscle Leg	muscle

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