Variant report

Variant	rs11207022
Chromosome Location	chr1:57848758-57848759
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	chr1:57848723-57848813	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000227935	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10047071	0.81[ASN][1000 genomes]
rs10047072	0.88[ASN][1000 genomes]
rs10047073	0.81[ASN][1000 genomes]
rs10047177	0.86[ASN][1000 genomes]
rs10047179	0.87[ASN][1000 genomes]
rs10493219	0.93[ASN][1000 genomes]
rs10493221	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889039	0.83[ASN][1000 genomes]
rs10889040	0.84[ASN][1000 genomes]
rs10889041	0.88[ASN][1000 genomes]
rs10889042	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889043	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207007	0.82[ASN][1000 genomes]
rs11207016	0.81[ASN][1000 genomes]
rs11207018	0.83[ASN][1000 genomes]
rs11207020	0.91[ASN][1000 genomes]
rs11207021	0.93[ASN][1000 genomes]
rs11207024	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207025	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207026	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207028	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207029	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11579258	0.93[ASN][1000 genomes]
rs11581250	0.93[ASN][1000 genomes]
rs11585284	0.93[ASN][1000 genomes]
rs11586826	0.93[ASN][1000 genomes]
rs11589921	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11590652	0.89[ASN][1000 genomes]
rs11590708	0.81[ASN][1000 genomes]
rs11799925	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11803514	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12067263	0.88[ASN][1000 genomes]
rs12092706	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12119210	0.81[ASN][1000 genomes]
rs12124445	0.93[ASN][1000 genomes]
rs12125219	0.93[ASN][1000 genomes]
rs12126723	0.81[ASN][1000 genomes]
rs12127603	0.93[ASN][1000 genomes]
rs12136107	0.93[ASN][1000 genomes]
rs12137540	0.87[ASN][1000 genomes]
rs12139429	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12240237	0.81[ASN][1000 genomes]
rs1240442	0.88[ASN][1000 genomes]
rs1240443	0.88[ASN][1000 genomes]
rs12405761	0.81[ASN][1000 genomes]
rs12565446	0.81[ASN][1000 genomes]
rs12565636	0.81[ASN][1000 genomes]
rs12566690	0.91[ASN][1000 genomes]
rs1364444	0.81[ASN][1000 genomes]
rs1424462	0.81[ASN][1000 genomes]
rs1424463	0.81[ASN][1000 genomes]
rs1424464	0.81[ASN][1000 genomes]
rs1424467	0.81[ASN][1000 genomes]
rs1424468	0.81[ASN][1000 genomes]
rs1424469	0.81[ASN][1000 genomes]
rs1424470	0.81[ASN][1000 genomes]
rs1557222	0.88[ASN][1000 genomes]
rs17115685	0.93[ASN][1000 genomes]
rs17115686	0.93[ASN][1000 genomes]
rs17115750	0.81[ASN][1000 genomes]
rs17423255	0.81[ASN][1000 genomes]
rs17424216	0.93[ASN][1000 genomes]
rs17425017	0.84[ASN][1000 genomes]
rs17457873	0.93[ASN][1000 genomes]
rs17458730	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17458751	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1778032	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1778033	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1834151	0.81[ASN][1000 genomes]
rs2052615	0.89[ASN][1000 genomes]
rs2052616	0.89[ASN][1000 genomes]
rs2052617	0.93[ASN][1000 genomes]
rs2113453	0.87[ASN][1000 genomes]
rs2113454	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2216808	0.84[ASN][1000 genomes]
rs2405697	0.88[ASN][1000 genomes]
rs267651	0.81[ASN][1000 genomes]
rs269038	0.88[ASN][1000 genomes]
rs269039	0.88[ASN][1000 genomes]
rs269044	0.81[EUR][1000 genomes]
rs269048	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs269049	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs269050	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs269054	0.81[EUR][1000 genomes]
rs269057	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3738553	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3844041	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3850549	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850550	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850552	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3850556	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3861833	0.88[ASN][1000 genomes]
rs3861834	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3896279	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3909556	0.93[ASN][1000 genomes]
rs3909557	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3909558	0.88[ASN][1000 genomes]
rs4912246	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4912247	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs511115	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs515148	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs516918	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs517825	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs532926	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs539310	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs553674	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs563099	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs563270	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs564880	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs564951	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs565032	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs566847	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs567773	0.81[ASN][1000 genomes]
rs61769670	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61769725	0.84[ASN][1000 genomes]
rs61769756	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6587767	0.81[ASN][1000 genomes]
rs6587768	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6665166	0.80[ASN][1000 genomes]
rs6668257	0.82[ASN][1000 genomes]
rs6677561	0.81[ASN][1000 genomes]
rs6687842	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6690017	0.82[ASN][1000 genomes]
rs72674872	0.80[ASN][1000 genomes]
rs72674892	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7513076	0.87[ASN][1000 genomes]
rs7528735	0.91[ASN][1000 genomes]
rs7540817	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv871530	chr1:57793948-57858319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871968	chr1:57803349-57858319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv954	chr1:57823140-57865799	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57846600-57853400	Enhancers	Fetal Brain Male	brain
2	chr1:57847000-57850200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57848000-57851000	Weak transcription	Fetal Brain Female	brain
4	chr1:57848000-57851600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:57848000-57859800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:57848200-57855000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:57848600-57849000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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