Variant report

Variant	rs2909217
Chromosome Location	chr17:66463985-66463986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:65960445..65961953-chr17:66462467..66463988,2	MCF-7	breast:
2	chr17:66458968..66465648-chr17:66506510..66510180,10	MCF-7	breast:
3	chr17:66460499..66464491-chr17:66506500..66510531,5	MCF-7	breast:
4	chr17:66459308..66461889-chr17:66462514..66465217,2	K562	blood:
5	chr17:66463233..66464971-chr17:66754716..66757139,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction
ENSG00000171634	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11868680	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1808335	0.86[ASN][1000 genomes]
rs2111508	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302783	0.88[ASN][1000 genomes]
rs2909209	0.88[ASN][1000 genomes]
rs2909211	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2909213	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909216	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909220	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909221	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2952280	0.80[EUR][1000 genomes]
rs2952283	0.82[EUR][1000 genomes]
rs2952286	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2952289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952290	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952294	0.88[ASN][1000 genomes]
rs2952295	0.88[ASN][1000 genomes]
rs2952296	0.87[ASN][1000 genomes]
rs71378928	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs883541	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2909217	PRKAR1A	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66454600-66464000	Weak transcription	Aorta	Aorta
2	chr17:66454600-66465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:66454600-66470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:66456800-66470400	Weak transcription	Right Ventricle	heart
5	chr17:66459200-66464000	Weak transcription	HSMM	muscle
6	chr17:66459200-66466200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:66460400-66470400	Weak transcription	Ovary	ovary
8	chr17:66461400-66465200	Enhancers	Fetal Muscle Leg	muscle
9	chr17:66462400-66464200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:66462400-66464400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:66462400-66464400	Weak transcription	HepG2	liver
12	chr17:66462400-66464400	Weak transcription	NHDF-Ad	bronchial
13	chr17:66462600-66467600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:66462800-66470400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr17:66463200-66464200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:66463200-66464400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:66463400-66465800	Flanking Active TSS	Fetal Heart	heart
18	chr17:66463600-66464200	Enhancers	Left Ventricle	heart
19	chr17:66463600-66464200	Enhancers	Right Atrium	heart
20	chr17:66463600-66464400	Enhancers	HSMMtube	muscle
21	chr17:66463600-66465200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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