Variant report

Variant	rs741624
Chromosome Location	chr12:106912929-106912930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10778483	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10778484	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861600	0.91[AFR][1000 genomes]
rs10861607	0.91[AFR][1000 genomes]
rs10861615	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861616	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112983	0.91[AFR][1000 genomes]
rs11113012	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11113014	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11113015	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11113016	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11113020	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11113023	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113025	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12231768	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13561	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17038484	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882413	0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes]
rs2243506	1.00[ASW][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];1.00[AFR][1000 genomes]
rs2245062	0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes]
rs2246353	0.91[AFR][1000 genomes]
rs2249162	0.91[AFR][1000 genomes]
rs2249773	0.91[AFR][1000 genomes]
rs2250262	0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.91[AFR][1000 genomes]
rs2250653	0.91[AFR][1000 genomes]
rs2252685	0.82[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap]
rs2253054	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2288266	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288269	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2374609	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34619628	0.80[AMR][1000 genomes]
rs3851635	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3902141	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308322	0.84[AFR][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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs741624	POLR3B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106886200-106916400	Weak transcription	A549	lung
2	chr12:106894400-106916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:106894600-106913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:106896400-106916800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:106898600-106916000	Weak transcription	HepG2	liver
6	chr12:106898800-106913200	Weak transcription	Fetal Lung	lung
7	chr12:106901000-106913200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:106905600-106913400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:106905800-106913000	Weak transcription	Fetal Stomach	stomach
10	chr12:106911400-106913200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:106912800-106913800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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