Variant report

Variant	rs7972020
Chromosome Location	chr12:83742627-83742628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10778975	0.87[EUR][1000 genomes]
rs10778978	0.87[EUR][1000 genomes]
rs10862637	0.87[EUR][1000 genomes]
rs12818087	0.83[ASN][1000 genomes]
rs12822324	0.82[ASN][1000 genomes]
rs12822793	0.83[ASN][1000 genomes]
rs34334422	0.82[ASN][1000 genomes]
rs35072063	0.83[ASN][1000 genomes]
rs61930894	0.83[ASN][1000 genomes]
rs6539734	0.87[EUR][1000 genomes]
rs6539739	0.87[EUR][1000 genomes]
rs7488567	0.87[EUR][1000 genomes]
rs7980737	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1042674	chr12:83620899-83942628	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv428593	chr12:83648236-83761301	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7972020	SLC6A15	cis	parietal	SCAN
rs7972020	NAV3	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83739800-83747000	Weak transcription	Psoas Muscle	Psoas
2	chr12:83741800-83743600	Weak transcription	Liver	Liver

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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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