Variant report

Variant	rs4944472
Chromosome Location	chr11:83922104-83922105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83921898..83923535-chr11:83927297..83928996,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10128587	0.89[JPT][hapmap]
rs1014066	0.85[CHB][hapmap]
rs1022308	0.89[JPT][hapmap]
rs1040131	0.94[JPT][hapmap]
rs10501555	0.85[CHB][hapmap];0.86[CHD][hapmap]
rs10732891	0.87[ASN][1000 genomes]
rs10736760	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs10736762	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736763	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751104	0.85[CHB][hapmap]
rs10751105	0.95[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap]
rs10751106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs10751107	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10751109	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs10792722	0.80[CHB][hapmap]
rs10792725	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs10792727	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10792728	0.95[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10792729	0.83[ASN][1000 genomes]
rs10792731	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs10792740	0.94[JPT][hapmap]
rs10792742	0.94[JPT][hapmap]
rs10792744	0.94[JPT][hapmap]
rs10792745	0.94[JPT][hapmap]
rs10898202	0.80[CHB][hapmap]
rs10898204	0.80[CHB][hapmap]
rs10898205	0.85[CHB][hapmap]
rs10898206	0.85[CHB][hapmap]
rs10898207	0.85[CHB][hapmap]
rs10898214	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs10898215	0.89[JPT][hapmap]
rs11233930	0.87[ASN][1000 genomes]
rs11233953	0.94[JPT][hapmap]
rs11233954	0.94[JPT][hapmap]
rs11233956	0.94[JPT][hapmap]
rs11233963	0.94[JPT][hapmap]
rs12272414	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12278134	0.94[JPT][hapmap]
rs12281587	0.94[JPT][hapmap]
rs1349820	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs1377745	0.85[CHB][hapmap]
rs1377746	0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1377747	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1377748	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1399617	0.94[JPT][hapmap]
rs1399618	0.94[JPT][hapmap]
rs1454016	0.90[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1454017	0.85[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1454019	0.85[CHB][hapmap]
rs1454020	0.83[ASN][1000 genomes]
rs1454021	0.94[JPT][hapmap]
rs1454022	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1454023	0.94[JPT][hapmap]
rs1454026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1454027	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs1515084	0.89[JPT][hapmap]
rs1515094	0.94[JPT][hapmap]
rs1551334	0.95[CHB][hapmap];0.80[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1551335	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573572	0.95[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1620817	0.90[CHB][hapmap]
rs1793037	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1793038	0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1793039	0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1813461	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823844	0.87[ASN][1000 genomes]
rs1849877	0.94[JPT][hapmap]
rs1869470	0.94[JPT][hapmap]
rs1869471	0.89[JPT][hapmap]
rs1869472	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1894169	0.85[CHB][hapmap]
rs1894170	0.85[CHB][hapmap]
rs1945799	0.80[CHB][hapmap]
rs1945800	0.81[MEX][hapmap]
rs1945808	0.80[CHB][hapmap]
rs1945820	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs1945822	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs1945823	0.90[CHB][hapmap]
rs1945824	0.90[CHB][hapmap]
rs1945825	0.90[CHB][hapmap]
rs1945826	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs1945827	0.81[CHB][hapmap]
rs1945828	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs2000961	0.85[CHB][hapmap];0.86[CHD][hapmap]
rs2051472	0.81[MEX][hapmap]
rs2105806	0.80[CHB][hapmap]
rs2123818	0.97[ASN][1000 genomes]
rs2156848	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2168007	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2213112	0.97[ASN][1000 genomes]
rs2213113	0.96[ASN][1000 genomes]
rs2298830	0.80[CHB][hapmap]
rs4354715	0.89[JPT][hapmap]
rs4454750	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4547116	0.90[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs4943888	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943889	0.94[JPT][hapmap]
rs4944468	0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs4944471	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592163	0.81[MEX][hapmap]
rs6592164	0.80[CHB][hapmap]
rs6592165	0.80[CHB][hapmap]
rs7103429	0.94[JPT][hapmap]
rs7106175	0.94[JPT][hapmap]
rs7108582	0.85[CHB][hapmap]
rs7109671	0.81[MEX][hapmap]
rs7112322	0.94[JPT][hapmap]
rs7114261	0.90[CHB][hapmap]
rs7120366	0.81[EUR][1000 genomes]
rs7123516	0.80[CHB][hapmap]
rs7123584	0.80[CHB][hapmap]
rs7130225	0.94[JPT][hapmap]
rs7483548	0.83[JPT][hapmap]
rs756197	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs7925243	0.89[JPT][hapmap]
rs7927039	0.85[CHB][hapmap]
rs7933566	0.94[JPT][hapmap]
rs7935399	0.80[CHB][hapmap]
rs7937260	0.83[ASN][1000 genomes]
rs7937925	0.94[JPT][hapmap]
rs7941004	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs7943267	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7948263	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs872510	0.85[CHB][hapmap]
rs872511	0.85[CHB][hapmap]
rs872512	0.85[CHB][hapmap]
rs884873	0.83[CHB][hapmap]
rs896996	0.94[JPT][hapmap]
rs896997	0.94[JPT][hapmap]
rs963259	0.94[JPT][hapmap]
rs970226	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs988322	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][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	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv898029	chr11:83717887-83939591	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4944472	PECI	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83920600-83923000	Weak transcription	Brain Angular Gyrus	brain
2	chr11:83921800-83922400	Enhancers	Brain Substantia Nigra	brain
3	chr11:83921800-83923000	Enhancers	Brain Anterior Caudate	brain
4	chr11:83922000-83922200	Enhancers	Brain Hippocampus Middle	brain

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