Variant report

Variant	rs11715818
Chromosome Location	chr3:55973123-55973124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11705830	0.84[ASN][1000 genomes]
rs11712398	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11713641	0.84[ASN][1000 genomes]
rs11919999	0.85[ASN][1000 genomes]
rs1303938	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13072547	0.82[ASN][1000 genomes]
rs13074256	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13076088	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13097725	0.81[ASN][1000 genomes]
rs1379724	0.84[ASN][1000 genomes]
rs2034917	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2316116	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2873080	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4386462	0.92[ASN][1000 genomes]
rs4541375	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs724334	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs749168	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7626642	0.81[ASN][1000 genomes]
rs7636557	0.81[AMR][1000 genomes];0.92[ASN][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	nsv1013063	chr3:55835413-56173713	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv876815	chr3:55895409-55979964	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv999867	chr3:55953433-56000627	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2645094	chr3:55971596-55973175	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11715818	ERC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:55969600-55991600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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