Variant report

Variant	rs2358048
Chromosome Location	chr6:120997943-120997944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10499098	0.82[EUR][1000 genomes]
rs11961543	0.91[EUR][1000 genomes]
rs11967874	0.82[EUR][1000 genomes]
rs11969028	0.90[EUR][1000 genomes]
rs11970527	0.84[EUR][1000 genomes]
rs12661436	0.82[EUR][1000 genomes]
rs12665301	0.92[EUR][1000 genomes]
rs17082730	0.82[EUR][1000 genomes]
rs17082740	0.82[EUR][1000 genomes]
rs1933820	0.87[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs4574687	0.92[EUR][1000 genomes]
rs55908530	0.82[EUR][1000 genomes]
rs6902043	0.89[ASN][1000 genomes]
rs6933679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72968094	0.92[EUR][1000 genomes]
rs72969940	0.82[EUR][1000 genomes]
rs7741833	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757191	chr6:120967277-121029949	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2759466	chr6:120967277-121029949	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv886586	chr6:120968061-121020821	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv886587	chr6:120978943-121006814	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv886588	chr6:120978943-121016929	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv886589	chr6:120978943-121020821	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv2763595	chr6:120981439-121002416	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv2754699	chr6:120983610-121029949	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv464036	chr6:120983748-121008679	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv604570	chr6:120983748-121008679	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv528002	chr6:120990240-121001633	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv7966	chr6:120990798-121002977	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2358048	ARG1	trans	cerebellum	SCAN
rs2358048	SERINC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120997600-121002200	Weak transcription	Hela-S3	cervix
2	chr6:120997600-121002400	Weak transcription	HMEC	breast

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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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