Variant report

Variant	rs12154971
Chromosome Location	chr7:84608329-84608330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:84608322-84608428	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84602502..84604355-chr7:84607200..84609135,2	K562	blood:

Variant related genes	Relation type
HNRNPA1P8	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1016027	0.95[EUR][1000 genomes]
rs10225455	0.98[EUR][1000 genomes]
rs10231441	0.97[EUR][1000 genomes]
rs10231783	0.84[ASN][1000 genomes]
rs10237102	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244898	0.93[EUR][1000 genomes]
rs10247311	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10256889	0.91[EUR][1000 genomes]
rs10260131	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10261725	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264465	0.88[EUR][1000 genomes]
rs10267189	0.91[EUR][1000 genomes]
rs10268216	0.93[EUR][1000 genomes]
rs10271823	0.93[EUR][1000 genomes]
rs10277834	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10281252	0.98[EUR][1000 genomes]
rs10282482	0.89[EUR][1000 genomes]
rs10486845	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10486847	0.83[AMR][1000 genomes]
rs11760335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766179	0.90[EUR][1000 genomes]
rs11771699	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11980498	0.96[EUR][1000 genomes]
rs11980984	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982720	0.85[EUR][1000 genomes]
rs12112643	0.85[EUR][1000 genomes]
rs12113270	0.85[EUR][1000 genomes]
rs12155292	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707691	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707692	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707693	0.93[EUR][1000 genomes]
rs12707695	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707696	0.95[EUR][1000 genomes]
rs13230423	0.92[EUR][1000 genomes]
rs13231019	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231340	0.98[EUR][1000 genomes]
rs13232515	0.93[EUR][1000 genomes]
rs13232613	0.93[EUR][1000 genomes]
rs13232789	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13233871	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234489	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13234914	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240751	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13242253	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13244179	0.93[EUR][1000 genomes]
rs13307855	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1468396	0.95[EUR][1000 genomes]
rs1528621	0.93[EUR][1000 genomes]
rs1534565	0.84[EUR][1000 genomes]
rs1534566	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1534572	0.90[EUR][1000 genomes]
rs17159470	0.91[EUR][1000 genomes]
rs17558957	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17559084	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17559978	0.83[EUR][1000 genomes]
rs17639510	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17639600	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1919282	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040954	0.87[EUR][1000 genomes]
rs2040957	0.98[EUR][1000 genomes]
rs2103312	0.93[EUR][1000 genomes]
rs2141415	0.93[EUR][1000 genomes]
rs2158727	0.87[EUR][1000 genomes]
rs2178236	0.93[EUR][1000 genomes]
rs2190211	0.84[EUR][1000 genomes]
rs2190213	0.82[EUR][1000 genomes]
rs2214820	0.85[EUR][1000 genomes]
rs2240393	0.96[EUR][1000 genomes]
rs2286185	0.97[EUR][1000 genomes]
rs2286189	0.85[EUR][1000 genomes]
rs2286190	0.84[EUR][1000 genomes]
rs2372503	0.92[EUR][1000 genomes]
rs2372510	0.84[EUR][1000 genomes]
rs2372511	0.84[EUR][1000 genomes]
rs28819164	0.92[EUR][1000 genomes]
rs34004921	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34134012	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34462522	0.93[EUR][1000 genomes]
rs34584772	0.93[EUR][1000 genomes]
rs34931062	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34996468	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35367762	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35449238	0.93[EUR][1000 genomes]
rs35600623	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35826544	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35853835	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35948002	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36201011	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141132	0.96[EUR][1000 genomes]
rs4560742	0.93[EUR][1000 genomes]
rs56039102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227953	0.84[EUR][1000 genomes]
rs57531424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59006756	0.85[EUR][1000 genomes]
rs62472060	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62472062	0.89[EUR][1000 genomes]
rs62472078	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62472081	0.91[EUR][1000 genomes]
rs62472087	0.93[EUR][1000 genomes]
rs62472088	0.93[EUR][1000 genomes]
rs62472110	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62472151	0.87[EUR][1000 genomes]
rs6468010	0.87[EUR][1000 genomes]
rs6959903	0.98[EUR][1000 genomes]
rs6962714	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6965396	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs713153	0.93[EUR][1000 genomes]
rs713154	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560707	0.93[EUR][1000 genomes]
rs7776699	0.93[EUR][1000 genomes]
rs7777682	0.93[EUR][1000 genomes]
rs7780675	0.97[EUR][1000 genomes]
rs7788896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790637	0.93[EUR][1000 genomes]
rs7790809	0.93[EUR][1000 genomes]
rs7793649	0.98[EUR][1000 genomes]
rs7794144	0.93[EUR][1000 genomes]
rs7794619	0.93[EUR][1000 genomes]
rs7794920	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798487	0.91[EUR][1000 genomes]
rs7800072	0.95[EUR][1000 genomes]
rs7801626	0.92[EUR][1000 genomes]
rs7803548	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807283	0.93[EUR][1000 genomes]
rs7809383	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811476	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9642196	0.93[EUR][1000 genomes]
rs9942642	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv981542	chr7:84607153-84614079	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84605600-84614600	Weak transcription	NHDF-Ad	bronchial
2	chr7:84608000-84608400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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