Variant report

Variant	rs11866225
Chromosome Location	chr16:48266480-48266481
allele	A/C
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	FOS	chr16:48266362-48266690	MCF10A-Er-Src	breast:	n/a	chr16:48266504-48266515
2	CTCF	chr16:48265502-48266568	A549	lung:	n/a	chr16:48265924-48265937
3	FOS	chr16:48266356-48266695	MCF10A-Er-Src	breast:	n/a	chr16:48266504-48266515
4	FOS	chr16:48266362-48266677	HUVEC	blood vessel:	n/a	chr16:48266504-48266515
5	FOS	chr16:48266363-48266635	MCF10A-Er-Src	breast:	n/a	chr16:48266504-48266515
6	FOSL2	chr16:48266316-48266712	A549	lung:	n/a	n/a
7	FOS	chr16:48266312-48266676	MCF10A-Er-Src	breast:	n/a	chr16:48266504-48266515

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48264506..48269686-chr16:48276668..48281172,8	MCF-7	breast:

Variant related genes	Relation type
ABCC11	TF binding region
ENSG00000102910	Chromatin interaction
ENSG00000121270	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10048092	1.00[ASN][1000 genomes]
rs10221107	1.00[ASN][1000 genomes]
rs10521167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076561	1.00[ASN][1000 genomes]
rs11076562	1.00[ASN][1000 genomes]
rs11076564	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076565	1.00[ASN][1000 genomes]
rs11552148	1.00[ASN][1000 genomes]
rs11859911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860789	1.00[ASN][1000 genomes]
rs11861348	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11861379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863133	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11863233	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11863236	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11863414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866312	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12103095	1.00[ASN][1000 genomes]
rs12149230	1.00[ASN][1000 genomes]
rs12149393	1.00[ASN][1000 genomes]
rs13330082	1.00[ASN][1000 genomes]
rs13330105	1.00[ASN][1000 genomes]
rs13331031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331250	1.00[ASN][1000 genomes]
rs13332304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13334052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336771	1.00[ASN][1000 genomes]
rs13337955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338978	1.00[ASN][1000 genomes]
rs1386053	1.00[ASN][1000 genomes]
rs1545942	1.00[ASN][1000 genomes]
rs16945972	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16945974	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16945988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946006	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946038	1.00[ASN][1000 genomes]
rs16946039	1.00[ASN][1000 genomes]
rs16946122	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843647	1.00[ASN][1000 genomes]
rs2129245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376623	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28378550	1.00[ASN][1000 genomes]
rs28470315	1.00[ASN][1000 genomes]
rs28503414	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28515165	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605399	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28617382	1.00[ASN][1000 genomes]
rs28626252	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28654935	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28684834	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28696036	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28716153	1.00[ASN][1000 genomes]
rs28718435	1.00[ASN][1000 genomes]
rs28823370	1.00[ASN][1000 genomes]
rs28842015	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28849445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135802	1.00[ASN][1000 genomes]
rs4325548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4528570	1.00[ASN][1000 genomes]
rs5017203	1.00[EUR][1000 genomes]
rs56385363	1.00[ASN][1000 genomes]
rs56829365	1.00[ASN][1000 genomes]
rs58409512	1.00[ASN][1000 genomes]
rs58938063	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59916796	1.00[ASN][1000 genomes]
rs60431412	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60745528	1.00[ASN][1000 genomes]
rs60760669	1.00[ASN][1000 genomes]
rs61122640	1.00[ASN][1000 genomes]
rs61676712	1.00[ASN][1000 genomes]
rs6500385	1.00[ASN][1000 genomes]
rs70973926	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184452	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186777	1.00[ASN][1000 genomes]
rs7186982	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187166	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7191181	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7202089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203378	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7203432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203659	1.00[ASN][1000 genomes]
rs73540901	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73542903	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73542904	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73546434	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555628	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562063	1.00[ASN][1000 genomes]
rs7359477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043803	1.00[ASN][1000 genomes]
rs8045819	1.00[ASN][1000 genomes]
rs8046408	1.00[ASN][1000 genomes]
rs8047397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048098	1.00[ASN][1000 genomes]
rs8049398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051186	1.00[ASN][1000 genomes]
rs8051441	1.00[ASN][1000 genomes]
rs8051546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051852	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054117	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054314	1.00[ASN][1000 genomes]
rs8054444	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055028	1.00[ASN][1000 genomes]
rs8055128	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8055764	1.00[ASN][1000 genomes]
rs8056100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056692	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056846	1.00[ASN][1000 genomes]
rs8058396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8060696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060722	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8060780	1.00[ASN][1000 genomes]
rs8062407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8190	1.00[ASN][1000 genomes]
rs9302757	1.00[ASN][1000 genomes]
rs9302758	1.00[ASN][1000 genomes]
rs9923897	1.00[ASN][1000 genomes]
rs9924184	1.00[ASN][1000 genomes]
rs9924497	0.83[ASN][1000 genomes]
rs9925591	1.00[ASN][1000 genomes]
rs9925772	1.00[ASN][1000 genomes]
rs9925935	1.00[ASN][1000 genomes]
rs9926206	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926363	1.00[ASN][1000 genomes]
rs9929978	0.83[ASN][1000 genomes]
rs9931294	1.00[ASN][1000 genomes]
rs9932328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932964	1.00[ASN][1000 genomes]
rs9933211	1.00[ASN][1000 genomes]
rs9934833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937882	1.00[ASN][1000 genomes]
rs9938003	1.00[ASN][1000 genomes]
rs9938414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938490	1.00[ASN][1000 genomes]
rs9938523	1.00[ASN][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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48263400-48268400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:48264400-48269200	Weak transcription	Stomach Mucosa	stomach
3	chr16:48264600-48270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:48265200-48266600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:48265200-48267000	Enhancers	HepG2	liver
6	chr16:48265600-48266800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:48265600-48266800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:48265600-48267000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:48265800-48266800	Enhancers	NHDF-Ad	bronchial
10	chr16:48266000-48266600	Weak transcription	Liver	Liver
11	chr16:48266000-48266800	Enhancers	A549	lung
12	chr16:48266000-48266800	Enhancers	GM12878-XiMat	blood
13	chr16:48266200-48266800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:48266200-48266800	Enhancers	Osteobl	bone

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