Variant report

Variant	rs8058776
Chromosome Location	chr16:71481109-71481110
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	chr16:71480678-71481493	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71480853..71482680-chr16:71484634..71486156,2	K562	blood:

Variant related genes	Relation type
ENSG00000262008	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10500558	0.84[ASN][1000 genomes]
rs11640165	0.84[ASN][1000 genomes]
rs11641492	0.84[ASN][1000 genomes]
rs11643216	0.84[ASN][1000 genomes]
rs11647749	0.85[ASN][1000 genomes]
rs12446461	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13331346	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1609868	0.90[ASN][1000 genomes]
rs1609869	0.93[ASN][1000 genomes]
rs2004672	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2070832	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288486	0.87[ASN][1000 genomes]
rs2288487	0.85[ASN][1000 genomes]
rs2288488	0.87[ASN][1000 genomes]
rs2303788	0.86[ASN][1000 genomes]
rs28372238	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs310334	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35373081	0.84[ASN][1000 genomes]
rs3813743	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3892120	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4149498	0.84[ASN][1000 genomes]
rs4503795	0.86[ASN][1000 genomes]
rs4620964	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58134724	0.88[ASN][1000 genomes]
rs58719913	0.84[ASN][1000 genomes]
rs7184543	0.85[ASN][1000 genomes]
rs7186241	0.85[ASN][1000 genomes]
rs7187165	0.87[ASN][1000 genomes]
rs7187354	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7188342	0.87[ASN][1000 genomes]
rs7192986	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7199026	0.85[ASN][1000 genomes]
rs7199373	0.88[ASN][1000 genomes]
rs7200335	0.80[ASN][1000 genomes]
rs7200431	0.88[ASN][1000 genomes]
rs7202662	0.85[ASN][1000 genomes]
rs7202953	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs730470	0.92[ASN][1000 genomes]
rs732318	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74026831	0.85[ASN][1000 genomes]
rs74027246	0.84[ASN][1000 genomes]
rs8044068	0.83[ASN][1000 genomes]
rs8044561	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8051212	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053662	0.84[ASN][1000 genomes]
rs8058294	0.88[ASN][1000 genomes]
rs8061078	0.89[AMR][1000 genomes]
rs9302623	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9926110	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9928243	0.83[ASN][1000 genomes]
rs9933680	0.86[ASN][1000 genomes]
rs9935426	0.89[ASN][1000 genomes]
rs9936249	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9940771	0.87[AMR][1000 genomes];0.83[ASN][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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71476800-71482000	Weak transcription	HepG2	liver
2	chr16:71478200-71482200	Weak transcription	Fetal Heart	heart
3	chr16:71478200-71487800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr16:71478600-71482000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:71479000-71482200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:71479400-71489200	ZNF genes & repeats	Liver	Liver
7	chr16:71479600-71487800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:71479600-71488000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr16:71480000-71485600	ZNF genes & repeats	Fetal Brain Female	brain
10	chr16:71480000-71487000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
11	chr16:71480400-71481600	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:71480400-71485600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:71480600-71484600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:71480600-71487800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr16:71480600-71488000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:71480600-71488200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:71480600-71491000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr16:71480800-71484800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:71480800-71486000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
20	chr16:71480800-71486600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr16:71480800-71486800	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr16:71480800-71486800	ZNF genes & repeats	NH-A	brain
23	chr16:71480800-71487200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr16:71480800-71487600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
25	chr16:71480800-71488200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:71481000-71481200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:71481000-71481200	ZNF genes & repeats	Fetal Stomach	stomach
28	chr16:71481000-71481200	ZNF genes & repeats	Gastric	stomach
29	chr16:71481000-71483400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:71481000-71484400	ZNF genes & repeats	HSMMtube	muscle
31	chr16:71481000-71484800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:71481000-71485200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr16:71481000-71485200	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr16:71481000-71485600	ZNF genes & repeats	Right Ventricle	heart
35	chr16:71481000-71486000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:71481000-71486000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr16:71481000-71486600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:71481000-71486800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:71481000-71487000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr16:71481000-71487600	ZNF genes & repeats	Psoas Muscle	Psoas
41	chr16:71481000-71487800	ZNF genes & repeats	Fetal Lung	lung
42	chr16:71481000-71489000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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