Variant report

Variant	rs12705266
Chromosome Location	chr7:104338193-104338194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1072699	1.00[CEU][hapmap]
rs10953443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768912	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs17141055	1.00[JPT][hapmap]
rs17141299	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs4131017	0.82[JPT][hapmap]
rs41373345	0.94[CHD][hapmap]
rs4436063	0.92[CHB][hapmap];0.94[CHD][hapmap]
rs6951477	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs6974634	0.82[EUR][1000 genomes]
rs73181859	0.99[EUR][1000 genomes]
rs7812002	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv429790	chr7:104314049-104488049	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12705266	PIK3CG	cis	cerebellum	SCAN
rs12705266	SRPK2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104333200-104340400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:104334600-104338400	Enhancers	Colon Smooth Muscle	Colon

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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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