Variant report

Variant	rs10512522
Chromosome Location	chr17:67020328-67020329
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67018616..67021531-chr17:67023419..67024932,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10048216	1.00[EUR][1000 genomes]
rs10512524	1.00[EUR][1000 genomes]
rs10512525	1.00[EUR][1000 genomes]
rs12103695	1.00[ASW][hapmap];1.00[CHD][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103736	1.00[EUR][1000 genomes]
rs13342218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1541469	1.00[CHD][hapmap]
rs16973430	1.00[EUR][1000 genomes]
rs16973446	1.00[CHD][hapmap]
rs16973452	1.00[CHD][hapmap]
rs16973507	1.00[EUR][1000 genomes]
rs16973508	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973511	1.00[EUR][1000 genomes]
rs16973554	1.00[EUR][1000 genomes]
rs16973575	1.00[EUR][1000 genomes]
rs1984722	1.00[CHD][hapmap]
rs2058128	1.00[EUR][1000 genomes]
rs28579127	0.92[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]
rs4968991	0.85[LWK][hapmap];0.95[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]
rs7221250	1.00[CHD][hapmap]
rs7222660	1.00[EUR][1000 genomes]
rs7222838	1.00[CHD][hapmap]
rs72559406	1.00[EUR][1000 genomes]
rs73354278	1.00[EUR][1000 genomes]
rs8065592	1.00[EUR][1000 genomes]
rs8070147	1.00[CHD][hapmap]
rs8076805	1.00[EUR][1000 genomes]
rs8081075	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9889750	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9890027	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9890160	1.00[EUR][1000 genomes]
rs9890600	0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9890654	1.00[EUR][1000 genomes]
rs9890816	1.00[AMR][1000 genomes]
rs9892453	1.00[EUR][1000 genomes]
rs9893173	1.00[ASW][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9894894	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895934	1.00[EUR][1000 genomes]
rs9899675	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899818	1.00[ASW][hapmap];1.00[CHD][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900211	1.00[EUR][1000 genomes]
rs9901117	1.00[EUR][1000 genomes]
rs9901228	1.00[EUR][1000 genomes]
rs9902715	1.00[EUR][1000 genomes]
rs9908650	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];1.00[CHD][hapmap];0.91[LWK][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9916254	1.00[ASW][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][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	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10512522	WIPI1	cis	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
3	chr17:67003800-67030600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67004000-67023400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:67007600-67042200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:67008400-67044000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:67009200-67043200	Weak transcription	Pancreas	Pancrea
8	chr17:67009400-67044000	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:67010400-67041200	Weak transcription	NHDF-Ad	bronchial
10	chr17:67011400-67027200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:67011400-67032600	Weak transcription	Fetal Muscle Leg	muscle
12	chr17:67011600-67022400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:67011600-67039200	Weak transcription	Left Ventricle	heart
14	chr17:67014000-67022000	Weak transcription	Fetal Lung	lung
15	chr17:67014000-67044200	Weak transcription	Psoas Muscle	Psoas
16	chr17:67015200-67023600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:67016200-67025800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:67016400-67024400	Strong transcription	Liver	Liver
19	chr17:67016800-67022400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:67019600-67021400	Strong transcription	Ovary	ovary
21	chr17:67019600-67024000	Strong transcription	Adipose Nuclei	Adipose
22	chr17:67019600-67024800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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