Variant report

Variant	rs1513917
Chromosome Location	chr7:108633265-108633266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108627088..108629313-chr7:108631998..108634024,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11971233	0.84[EUR][1000 genomes]
rs11971282	0.84[EUR][1000 genomes]
rs11975647	0.84[EUR][1000 genomes]
rs1399007	0.89[ASN][1000 genomes]
rs1513922	0.96[ASN][1000 genomes]
rs1513923	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs275543	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs275545	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs275547	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs670501	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73190608	0.84[EUR][1000 genomes]
rs757152	0.94[ASN][1000 genomes]
rs7811540	0.83[EUR][1000 genomes]
rs848360	0.84[ASN][1000 genomes]
rs848362	0.84[ASN][1000 genomes]
rs848363	0.84[ASN][1000 genomes]
rs848364	0.84[ASN][1000 genomes]
rs848365	0.84[ASN][1000 genomes]
rs848366	0.84[ASN][1000 genomes]
rs848367	0.84[ASN][1000 genomes]
rs848369	0.84[ASN][1000 genomes]
rs848370	0.84[ASN][1000 genomes]
rs916858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv888946	chr7:108592224-108644939	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv608075	chr7:108592224-108657719	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv824251	chr7:108595570-108643855	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757235	chr7:108595645-108660398	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2759551	chr7:108595645-108660398	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv888947	chr7:108596014-108644939	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv442060	chr7:108596015-108637601	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv888948	chr7:108601089-108644939	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1513917	PNPLA8	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108624800-108636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:108625000-108637200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:108628400-108641800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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