Variant report

Variant	rs9916254
Chromosome Location	chr17:66982447-66982448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10048216	1.00[EUR][1000 genomes]
rs10512522	1.00[ASW][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs10512524	1.00[EUR][1000 genomes]
rs10512525	1.00[EUR][1000 genomes]
rs12103695	1.00[ASW][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs12103736	1.00[EUR][1000 genomes]
rs13342218	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16973430	1.00[EUR][1000 genomes]
rs16973507	1.00[EUR][1000 genomes]
rs16973508	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs16973511	1.00[EUR][1000 genomes]
rs16973554	1.00[EUR][1000 genomes]
rs16973575	1.00[EUR][1000 genomes]
rs2058128	1.00[EUR][1000 genomes]
rs28579127	0.85[LWK][hapmap];0.86[MKK][hapmap];1.00[EUR][1000 genomes]
rs28777976	1.00[EUR][1000 genomes]
rs28851500	1.00[EUR][1000 genomes]
rs3863518	1.00[EUR][1000 genomes]
rs4147979	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4968991	0.84[MKK][hapmap];1.00[EUR][1000 genomes]
rs57920318	1.00[EUR][1000 genomes]
rs58968107	1.00[EUR][1000 genomes]
rs61744800	1.00[EUR][1000 genomes]
rs7216483	1.00[EUR][1000 genomes]
rs7216499	1.00[EUR][1000 genomes]
rs7220968	1.00[EUR][1000 genomes]
rs7222660	1.00[EUR][1000 genomes]
rs72559406	1.00[EUR][1000 genomes]
rs73354278	1.00[EUR][1000 genomes]
rs8065592	1.00[EUR][1000 genomes]
rs8076805	1.00[EUR][1000 genomes]
rs8078628	1.00[EUR][1000 genomes]
rs8081075	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9889750	1.00[EUR][1000 genomes]
rs9890027	1.00[ASW][hapmap];0.81[MKK][hapmap];1.00[EUR][1000 genomes]
rs9890160	1.00[EUR][1000 genomes]
rs9890600	1.00[EUR][1000 genomes]
rs9890654	1.00[EUR][1000 genomes]
rs9892453	1.00[EUR][1000 genomes]
rs9893173	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894894	1.00[EUR][1000 genomes]
rs9895934	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899675	1.00[EUR][1000 genomes]
rs9899818	1.00[ASW][hapmap];0.86[LWK][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9900211	1.00[EUR][1000 genomes]
rs9901117	1.00[EUR][1000 genomes]
rs9901228	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9902715	1.00[EUR][1000 genomes]
rs9908650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910224	1.00[EUR][1000 genomes]
rs9913052	1.00[EUR][1000 genomes]
rs9914407	1.00[EUR][1000 genomes]
rs9915531	1.00[ASW][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:25 , 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	chr17:66977200-66982800	Strong transcription	Ovary	ovary
6	chr17:66977400-66984200	Weak transcription	Gastric	stomach
7	chr17:66977400-66989400	Weak transcription	Pancreas	Pancrea
8	chr17:66977600-67001400	Weak transcription	Fetal Lung	lung
9	chr17:66977800-66984000	Weak transcription	HepG2	liver
10	chr17:66977800-66987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:66977800-66991000	Weak transcription	Fetal Stomach	stomach
12	chr17:66977800-66991600	Strong transcription	Adipose Nuclei	Adipose
13	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:66978600-66987200	Weak transcription	NHDF-Ad	bronchial
15	chr17:66978600-66988000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:66978600-66989400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:66979400-67005400	Weak transcription	Psoas Muscle	Psoas
18	chr17:66979600-67001200	Weak transcription	Left Ventricle	heart
19	chr17:66980000-66982600	Weak transcription	Lung	lung
20	chr17:66980400-67009400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:66981200-66983600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:66981400-66982600	Weak transcription	Liver	Liver
23	chr17:66981400-66983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:66981400-67001200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:66981400-67001400	Weak transcription	Fetal Muscle Leg	muscle

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