Variant report

Variant	rs11653260
Chromosome Location	chr17:66464683-66464684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66458968..66465648-chr17:66506510..66510180,10	MCF-7	breast:
2	chr17:66459308..66461889-chr17:66462514..66465217,2	K562	blood:
3	chr17:66463233..66464971-chr17:66754716..66757139,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12943658	0.82[ASW][hapmap];0.84[CEU][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62085938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209319	1.00[ASW][hapmap];0.86[LWK][hapmap];0.91[YRI][hapmap];0.88[AFR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11653260	WIPI1	cis	cerebellum	SCAN
rs11653260	PRKAR1A	cis	multi-tissue	Pritchard
rs11653260	ARSG	cis	cerebellum	SCAN
rs11653260	DDX42	cis	cerebellum	SCAN
rs11653260	LOC440461	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66454600-66465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:66454600-66470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:66456800-66470400	Weak transcription	Right Ventricle	heart
4	chr17:66459200-66466200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:66460400-66470400	Weak transcription	Ovary	ovary
6	chr17:66461400-66465200	Enhancers	Fetal Muscle Leg	muscle
7	chr17:66462600-66467600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:66462800-66470400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:66463400-66465800	Flanking Active TSS	Fetal Heart	heart
10	chr17:66463600-66465200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:66464000-66465200	Enhancers	Aorta	Aorta
12	chr17:66464000-66465800	Enhancers	HSMM	muscle
13	chr17:66464200-66464800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:66464200-66464800	Enhancers	NHLF	lung
15	chr17:66464200-66465200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:66464200-66465200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr17:66464200-66465600	Enhancers	NH-A	brain
18	chr17:66464200-66468600	Weak transcription	Left Ventricle	heart
19	chr17:66464400-66465200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:66464400-66465200	Enhancers	NHDF-Ad	bronchial
21	chr17:66464400-66465400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:66464400-66465800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:66464400-66465800	Enhancers	HepG2	liver
24	chr17:66464600-66464800	Enhancers	HSMMtube	muscle

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