Variant report

Variant	rs72802492
Chromosome Location	chr2:47003366-47003367
allele	A/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	FOS	chr2:47003050-47003523	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr2:47003356-47003552	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr2:47002577-47003395	A549	lung:	n/a	n/a
4	STAT3	chr2:47003252-47003440	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47000943..47003874-chr2:47028312..47030730,2	MCF-7	breast:
2	chr2:46859166..46860148-chr2:47003282..47004503,4	K562	blood:

Variant related genes	Relation type
ENSG00000260977	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10495937	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903382	0.85[EUR][1000 genomes]
rs1446496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035524	1.00[ASN][1000 genomes]
rs17767307	1.00[AFR][1000 genomes]
rs17771005	0.90[EUR][1000 genomes]
rs17771017	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17771098	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17771201	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17771237	0.85[EUR][1000 genomes]
rs17771255	0.85[EUR][1000 genomes]
rs17771357	0.85[EUR][1000 genomes]
rs17771942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17772285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17772991	1.00[AFR][1000 genomes]
rs17773016	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17820969	0.80[EUR][1000 genomes]
rs17821218	0.80[EUR][1000 genomes]
rs17821989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17822782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17823065	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17823581	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2045290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41371146	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41379148	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41453849	0.83[ASN][1000 genomes]
rs55874432	0.93[EUR][1000 genomes]
rs55928499	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56006635	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56060227	0.83[ASN][1000 genomes]
rs56199036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224128	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56800355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57124017	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57420323	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58200475	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58362257	0.83[ASN][1000 genomes]
rs58509367	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58903656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59186028	1.00[ASN][1000 genomes]
rs59785662	1.00[ASN][1000 genomes]
rs59882453	0.83[ASN][1000 genomes]
rs60506146	1.00[ASN][1000 genomes]
rs61075718	0.83[ASN][1000 genomes]
rs61654472	0.83[ASN][1000 genomes]
rs6731970	0.91[EUR][1000 genomes]
rs6735101	0.90[EUR][1000 genomes]
rs72800597	0.80[EUR][1000 genomes]
rs72800599	0.80[EUR][1000 genomes]
rs72800600	0.80[EUR][1000 genomes]
rs72800602	0.80[EUR][1000 genomes]
rs72802404	0.80[EUR][1000 genomes]
rs72802406	0.80[EUR][1000 genomes]
rs72802407	0.83[EUR][1000 genomes]
rs72802408	0.80[EUR][1000 genomes]
rs72802415	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802428	0.86[EUR][1000 genomes]
rs72802429	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72802430	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72802435	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72802441	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802444	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802445	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802462	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802463	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802464	1.00[ASN][1000 genomes]
rs72802465	1.00[ASN][1000 genomes]
rs72802466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802468	0.86[AMR][1000 genomes]
rs72802469	0.86[AMR][1000 genomes]
rs72802470	0.86[AMR][1000 genomes]
rs72802486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802493	1.00[ASN][1000 genomes]
rs72802498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802499	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802501	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802502	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72804404	0.86[AMR][1000 genomes]
rs72804430	0.86[AMR][1000 genomes]
rs7566275	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578911	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv213378	chr2:47001834-47006121	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
5	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:46998800-47005600	Weak transcription	Fetal Brain Male	brain
9	chr2:46999800-47004000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:47000800-47005000	Weak transcription	HepG2	liver
11	chr2:47001000-47004000	Enhancers	NHDF-Ad	bronchial
12	chr2:47001000-47008600	Enhancers	Osteobl	bone
13	chr2:47001800-47004000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:47002000-47004400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:47002000-47004600	Enhancers	A549	lung
16	chr2:47002600-47005400	Weak transcription	Right Ventricle	heart
17	chr2:47002800-47005400	Weak transcription	NHLF	lung
18	chr2:47002800-47005600	Weak transcription	Right Atrium	heart
19	chr2:47002800-47007000	Weak transcription	Ovary	ovary
20	chr2:47003000-47003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:47003200-47005400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:47003200-47005800	Weak transcription	Muscle Satellite Cultured Cells	--

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