Variant report

Variant	rs12146907
Chromosome Location	chr13:76081214-76081215
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76074591..76077298-chr13:76079207..76081950,2	K562	blood:
2	chr13:76080347..76082551-chr13:76083582..76085785,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1050235	1.00[GIH][hapmap];0.84[AMR][1000 genomes]
rs11148993	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs12146901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146936	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12861774	1.00[ASN][1000 genomes]
rs12865529	1.00[GIH][hapmap]
rs12869081	1.00[GIH][hapmap];0.84[AMR][1000 genomes]
rs17064647	1.00[GIH][hapmap]
rs2146981	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs34572351	0.87[AMR][1000 genomes]
rs35901810	0.84[AMR][1000 genomes]
rs36043532	0.87[AMR][1000 genomes]
rs4885298	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs4885299	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885301	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885302	0.87[AMR][1000 genomes]
rs4885303	0.84[AMR][1000 genomes]
rs4885304	0.87[AMR][1000 genomes]
rs66528354	0.84[AMR][1000 genomes]
rs67051742	0.84[AMR][1000 genomes]
rs67211435	0.87[AMR][1000 genomes]
rs67532736	0.87[AMR][1000 genomes]
rs71215998	0.87[AMR][1000 genomes]
rs7325969	1.00[GIH][hapmap]
rs7986201	1.00[ASN][1000 genomes]
rs9318351	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530443	0.87[AMR][1000 genomes]
rs9530444	0.87[AMR][1000 genomes]
rs9543938	1.00[ASN][1000 genomes]
rs9543941	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543943	0.82[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543948	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543949	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543950	0.87[AMR][1000 genomes]
rs9543952	0.87[AMR][1000 genomes]
rs9543953	0.84[AMR][1000 genomes]
rs9543961	0.84[AMR][1000 genomes]
rs9593081	0.83[EUR][1000 genomes]
rs9593085	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593086	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600482	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634728	0.81[EUR][1000 genomes]
rs9634729	0.83[EUR][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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12146907	UCHL3	cis	parietal	SCAN
rs12146907	LMO7	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76078400-76082600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:76079000-76082600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:76079600-76082200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:76080400-76083200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr13:76081000-76081600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:76081200-76081400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:76081200-76081600	Enhancers	HMEC	breast
8	chr13:76081200-76081800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr13:76081200-76082000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:76081200-76082200	Enhancers	Fetal Muscle Leg	muscle
11	chr13:76081200-76082600	Enhancers	Psoas Muscle	Psoas
12	chr13:76081200-76083200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:76081200-76083400	Enhancers	Primary neutrophils fromperipheralblood	blood

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