Variant report

Variant	rs2579072
Chromosome Location	chr12:51243580-51243581
allele	A/T
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:11)

rs_ID	r²[population]
rs11169590	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169620	0.90[EUR][1000 genomes]
rs12311433	0.91[EUR][1000 genomes]
rs12311437	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12312292	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317842	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125002	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59396115	0.93[EUR][1000 genomes]
rs61305556	0.91[EUR][1000 genomes]
rs829127	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs864900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2579072	C1orf115	trans	lymphoblastoid	seeQTL
rs2579072	LETMD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51237000-51244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51237000-51244400	Weak transcription	Gastric	stomach
3	chr12:51237800-51246400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:51243000-51244400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:51243400-51244200	Weak transcription	Psoas Muscle	Psoas
6	chr12:51243400-51244400	Weak transcription	Skeletal Muscle Male	skeletal 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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