Variant report

Variant	rs1804984
Chromosome Location	chr16:71481520-71481521
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10468265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13336809	0.95[EUR][1000 genomes]
rs16972808	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16973112	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16973190	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16973286	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2052873	0.96[EUR][1000 genomes]
rs3886947	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56222754	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57821244	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59364668	0.85[EUR][1000 genomes]
rs61171207	0.97[EUR][1000 genomes]
rs6499521	0.82[EUR][1000 genomes]
rs72791971	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72791974	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72795864	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72795867	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72795869	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72795881	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72797728	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8051439	0.97[EUR][1000 genomes]
rs8056735	0.95[EUR][1000 genomes]
rs9989376	0.88[EUR][1000 genomes]
rs9989377	0.97[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1804984	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx
rs1804984	ENSG00000167377	cis	multi-tissue	Pritchard

Chromatin state (count:44 , 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	chr16:71481000-71483400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:71481000-71484400	ZNF genes & repeats	HSMMtube	muscle
28	chr16:71481000-71484800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:71481000-71485200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr16:71481000-71485200	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr16:71481000-71485600	ZNF genes & repeats	Right Ventricle	heart
32	chr16:71481000-71486000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:71481000-71486000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr16:71481000-71486600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:71481000-71486800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:71481000-71487000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr16:71481000-71487600	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr16:71481000-71487800	ZNF genes & repeats	Fetal Lung	lung
39	chr16:71481000-71489000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:71481200-71481600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:71481200-71486000	ZNF genes & repeats	HSMM	muscle
42	chr16:71481200-71487600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:71481200-71487800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr16:71481400-71487200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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