Variant report

Variant	rs1156668
Chromosome Location	chr1:222205808-222205809
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10863672	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863673	0.91[EUR][1000 genomes]
rs11118917	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118919	0.82[CEU][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12130377	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133266	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1339872	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2185326	0.83[JPT][hapmap]
rs2790756	0.83[JPT][hapmap]
rs2790758	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2800856	0.82[ASN][1000 genomes]
rs4475760	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4503353	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6604695	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6671937	0.82[CEU][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes]
rs7546586	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1156668	IARS2	cis	cerebellum	SCAN
rs1156668	USH2A	cis	parietal	SCAN
rs1156668	RRP15	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222195000-222216000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222204200-222216600	Weak transcription	Aorta	Aorta
3	chr1:222205200-222208200	Weak transcription	Psoas Muscle	Psoas
4	chr1:222205600-222211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:222205800-222206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:222205800-222207000	Weak transcription	Fetal Heart	heart
7	chr1:222205800-222212600	Weak transcription	Fetal Muscle Leg	muscle

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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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