Variant report

Variant	rs7125114
Chromosome Location	chr11:70868869-70868870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10897725	0.87[EUR][1000 genomes]
rs10897726	0.86[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs11232300	0.86[EUR][1000 genomes]
rs11232301	0.85[EUR][1000 genomes]
rs11232304	0.85[EUR][1000 genomes]
rs11232305	0.83[EUR][1000 genomes]
rs12271307	0.89[EUR][1000 genomes]
rs12272223	0.88[EUR][1000 genomes]
rs12273513	0.85[EUR][1000 genomes]
rs12273863	0.85[EUR][1000 genomes]
rs12274896	0.85[EUR][1000 genomes]
rs12282822	0.89[EUR][1000 genomes]
rs12289383	0.85[EUR][1000 genomes]
rs17431746	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28811899	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28876818	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34402475	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35136877	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245462	0.86[EUR][1000 genomes]
rs4304805	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs4334036	0.86[EUR][1000 genomes]
rs4348928	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944245	0.87[EUR][1000 genomes]
rs4944282	0.92[ASN][1000 genomes]
rs55664123	0.88[EUR][1000 genomes]
rs55726773	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55757613	0.81[EUR][1000 genomes]
rs55988920	0.88[EUR][1000 genomes]
rs56035448	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56144630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181437	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56291131	0.96[EUR][1000 genomes]
rs56341503	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56393668	0.95[EUR][1000 genomes]
rs58093994	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59052115	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60079515	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60524701	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61582992	0.96[EUR][1000 genomes]
rs66521164	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7116150	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123898	0.89[EUR][1000 genomes]
rs72957115	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957676	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72957677	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72957679	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72957686	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72957688	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72957690	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72957691	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72957699	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959503	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959507	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959517	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959521	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72959524	0.96[EUR][1000 genomes]
rs7931474	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932968	0.86[EUR][1000 genomes]
rs7933736	0.87[TSI][hapmap]
rs7933912	0.89[EUR][1000 genomes]
rs7945968	0.85[EUR][1000 genomes]
rs7949824	0.89[EUR][1000 genomes]
rs7950101	0.89[EUR][1000 genomes]
rs9888203	0.82[EUR][1000 genomes]
rs9888294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888299	0.82[EUR][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7125114	CABP4	cis	parietal	SCAN
rs7125114	CDK2AP2	cis	cerebellum	SCAN
rs7125114	TCIRG1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70858200-70891000	Weak transcription	Gastric	stomach
2	chr11:70864600-70874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:70864600-70886000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:70865000-70869800	Weak transcription	Fetal Kidney	kidney
5	chr11:70865400-70880000	Weak transcription	A549	lung
6	chr11:70865600-70876400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:70865600-70876800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:70865600-70882400	Weak transcription	Placenta	Placenta
9	chr11:70865600-70885800	Weak transcription	Pancreas	Pancrea
10	chr11:70865800-70870000	Weak transcription	Liver	Liver
11	chr11:70865800-70876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:70866400-70881800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:70867200-70876600	Weak transcription	Fetal Intestine Large	intestine
14	chr11:70867600-70881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:70867800-70876400	Weak transcription	HepG2	liver
16	chr11:70868800-70869200	ZNF genes & repeats	Fetal Intestine Small	intestine

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