Variant report

Variant	rs2059280
Chromosome Location	chr16:81334431-81334432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81333746..81337567-chr16:81339565..81345155,7	MCF-7	breast:
2	chr16:81333376..81336301-chr16:81362170..81364145,2	K562	blood:
3	chr16:81333283..81335353-chr16:81338867..81340546,2	K562	blood:
4	chr16:81328128..81330330-chr16:81332372..81334945,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1035573	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11150386	0.82[JPT][hapmap]
rs11647874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11859133	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12448327	0.91[CEU][hapmap]
rs12924233	0.82[JPT][hapmap]
rs12929595	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12929776	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17188615	1.00[CEU][hapmap]
rs1862843	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1895539	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1946285	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1946287	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1981884	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2081264	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2216771	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2550738	0.91[CEU][hapmap]
rs2615701	0.91[CEU][hapmap]
rs2911441	0.84[CEU][hapmap]
rs310025	0.86[CEU][hapmap]
rs310032	0.87[CEU][hapmap]
rs310035	1.00[CEU][hapmap]
rs4598907	0.82[JPT][hapmap]
rs4625712	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889299	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889300	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889302	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889307	1.00[CEU][hapmap]
rs4889308	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56256128	0.92[EUR][1000 genomes]
rs6564871	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7191409	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs7196075	0.82[JPT][hapmap]
rs7202902	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7630	0.83[CEU][hapmap]
rs8053351	0.87[EUR][1000 genomes]
rs889747	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs918773	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs918775	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9673346	0.81[EUR][1000 genomes]
rs9673795	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9889027	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81309200-81345200	Weak transcription	Brain Hippocampus Middle	brain
2	chr16:81328000-81347000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81328200-81347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:81328600-81347000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:81328800-81344800	Weak transcription	Fetal Intestine Small	intestine
6	chr16:81328800-81345200	Weak transcription	Fetal Intestine Large	intestine
7	chr16:81330600-81344800	Weak transcription	Esophagus	oesophagus
8	chr16:81330600-81347200	Weak transcription	Gastric	stomach
9	chr16:81331600-81344800	Weak transcription	Ovary	ovary
10	chr16:81331600-81347000	Weak transcription	Right Ventricle	heart
11	chr16:81331800-81346400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:81332000-81345400	Weak transcription	Thymus	Thymus
13	chr16:81332200-81346400	Weak transcription	Fetal Stomach	stomach
14	chr16:81332400-81344600	Weak transcription	Brain Angular Gyrus	brain
15	chr16:81332400-81346400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:81333000-81334600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:81333200-81346400	Weak transcription	Brain Germinal Matrix	brain
18	chr16:81333400-81335000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:81334400-81346600	Weak transcription	Colon Smooth Muscle	Colon

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