Variant report

Variant	rs17192702
Chromosome Location	chr9:13954734-13954735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13290672	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36092776	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66840986	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71511072	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022001	chr9:13717736-13983738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv613635	chr9:13893246-13961462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1015319	chr9:13931836-13970419	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv613636	chr9:13936438-13975480	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17192702	SNAPC3	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13933600-13961600	Weak transcription	Psoas Muscle	Psoas
2	chr9:13939800-13956200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:13940400-13962000	Weak transcription	Left Ventricle	heart
4	chr9:13953200-13955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:13953400-13956400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:13953600-13955200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:13954000-13955000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:13954200-13955000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:13954200-13955000	Enhancers	Fetal Lung	lung
10	chr9:13954400-13955000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:13954400-13955000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:13954400-13955000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:13954400-13955000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:13954400-13955200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:13954400-13955200	Enhancers	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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