Variant report

Variant	rs73590703
Chromosome Location	chr16:72860339-72860340
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	CEBPB	chr16:72860159-72860435	IMR90	lung:	n/a	chr16:72860293-72860304 chr16:72860292-72860305 chr16:72860292-72860303
2	CEBPB	chr16:72860164-72860405	A549	lung:	n/a	chr16:72860293-72860304 chr16:72860292-72860305 chr16:72860292-72860303
3	CEBPB	chr16:72860161-72860455	HepG2	liver:	n/a	chr16:72860293-72860304 chr16:72860292-72860305 chr16:72860292-72860303

No.	Distal block	Cell Line	Cell type
1	chr16:72853311..72856094-chr16:72857823..72860616,2	K562	blood:
2	chr16:72859578..72865320-chr16:73088952..73093229,7	MCF-7	breast:
3	chr16:72854800..72858382-chr16:72859997..72862205,4	MCF-7	breast:
4	chr16:72850720..72853694-chr16:72859587..72861277,2	MCF-7	breast:

Variant related genes	Relation type
RNU7-71P	TF binding region
ENSG00000251868	Chromatin interaction
ENSG00000140836	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11861408	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861672	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866292	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329845	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336634	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971145	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[EUR][1000 genomes]
rs16971382	1.00[EUR][1000 genomes]
rs28464989	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28530505	1.00[EUR][1000 genomes]
rs28693857	1.00[EUR][1000 genomes]
rs28828717	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847294	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255793	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56804755	1.00[EUR][1000 genomes]
rs56991537	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60176428	1.00[EUR][1000 genomes]
rs61192283	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61235372	1.00[EUR][1000 genomes]
rs61655021	1.00[EUR][1000 genomes]
rs6499589	1.00[EUR][1000 genomes]
rs7184224	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185566	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187768	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193704	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195234	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202598	1.00[EUR][1000 genomes]
rs73583171	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	1.00[EUR][1000 genomes]
rs73584955	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590712	1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	1.00[EUR][1000 genomes]
rs73590791	1.00[EUR][1000 genomes]
rs8043976	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045813	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048860	0.83[AMR][1000 genomes]
rs8051123	1.00[EUR][1000 genomes]
rs8051371	1.00[EUR][1000 genomes]
rs8061838	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302642	0.83[AMR][1000 genomes]
rs9923235	0.83[AMR][1000 genomes]
rs9926706	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933331	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933418	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9935826	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
4	chr16:72833600-72861000	Weak transcription	Hela-S3	cervix
5	chr16:72833800-72861800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:72835200-72860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:72835200-72867400	Weak transcription	NHEK	skin
10	chr16:72845600-72861400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:72845600-72861600	Weak transcription	Fetal Kidney	kidney
12	chr16:72845600-72869400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:72845800-72862200	Weak transcription	Colonic Mucosa	Colon
15	chr16:72845800-72863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:72845800-72863200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr16:72845800-72865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:72845800-72867000	Weak transcription	Ovary	ovary
19	chr16:72846000-72860800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr16:72846000-72861400	Weak transcription	Placenta	Placenta
21	chr16:72846000-72861400	Weak transcription	Left Ventricle	heart
22	chr16:72846000-72861600	Weak transcription	Gastric	stomach
23	chr16:72846000-72863200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:72846600-72861400	Weak transcription	Fetal Intestine Large	intestine
25	chr16:72846600-72863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:72846800-72860800	Weak transcription	Adipose Nuclei	Adipose
27	chr16:72847000-72861600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr16:72848400-72861400	Weak transcription	Aorta	Aorta
29	chr16:72848400-72861400	Weak transcription	Pancreas	Pancrea
30	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
31	chr16:72850000-72861400	Weak transcription	GM12878-XiMat	blood
32	chr16:72851800-72861400	Weak transcription	Right Atrium	heart
33	chr16:72852600-72861200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr16:72852600-72866400	Weak transcription	Brain Anterior Caudate	brain
35	chr16:72854000-72860800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:72854000-72861000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:72854000-72864000	Weak transcription	NH-A	brain
38	chr16:72854200-72861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:72854200-72861000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:72854200-72861400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:72854200-72867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:72854400-72861600	Weak transcription	Osteobl	bone
43	chr16:72854400-72867000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr16:72854600-72862400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:72854800-72860800	Weak transcription	Colon Smooth Muscle	Colon
46	chr16:72854800-72861000	Weak transcription	NHLF	lung
47	chr16:72854800-72862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:72855200-72860800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:72855200-72863400	Weak transcription	NHDF-Ad	bronchial
50	chr16:72855800-72861400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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