Variant report

Variant	rs8046850
Chromosome Location	chr16:81466895-81466896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81459238..81461801-chr16:81466578..81468200,2	K562	blood:
2	chr16:81465030..81467170-chr16:81468085..81470508,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10871413	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11644873	0.90[ASN][1000 genomes]
rs11865413	0.90[ASN][1000 genomes]
rs12599356	0.92[ASN][1000 genomes]
rs13332457	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28367160	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62043896	0.91[ASN][1000 genomes]
rs62043902	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7188944	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73588526	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8044201	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8046885	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9927153	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9941113	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[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	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	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
3	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
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81463200-81469400	Weak transcription	Pancreas	Pancrea
2	chr16:81463200-81471600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:81464600-81467600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:81464800-81467200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr16:81464800-81467200	Enhancers	Fetal Muscle Leg	muscle
6	chr16:81464800-81467400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr16:81464800-81469000	Enhancers	Fetal Thymus	thymus
8	chr16:81465000-81467200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:81465000-81467200	Enhancers	Fetal Muscle Trunk	muscle
10	chr16:81465200-81467600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:81465200-81467800	Enhancers	Primary hematopoietic stem cells	blood
12	chr16:81465400-81467400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:81465600-81467000	Enhancers	HSMMtube	muscle
14	chr16:81465600-81467200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81465600-81467200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:81465600-81467200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr16:81465600-81467600	Enhancers	GM12878-XiMat	blood
18	chr16:81465800-81467200	Enhancers	A549	lung
19	chr16:81465800-81467200	Enhancers	HSMM	muscle
20	chr16:81466000-81468800	Weak transcription	K562	blood
21	chr16:81466000-81469400	Weak transcription	NH-A	brain
22	chr16:81466000-81471600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:81466200-81468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:81466200-81468600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:81466200-81468600	Weak transcription	Adipose Nuclei	Adipose
26	chr16:81466200-81469600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:81466200-81471400	Weak transcription	Osteobl	bone
28	chr16:81466400-81467000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr16:81466400-81467200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:81466400-81467800	Enhancers	Primary B cells from cord blood	blood
31	chr16:81466600-81467000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr16:81466600-81467000	Flanking Active TSS	Dnd41	blood
33	chr16:81466600-81467200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr16:81466600-81467200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr16:81466600-81467200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr16:81466600-81467200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr16:81466600-81467200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr16:81466600-81467200	Flanking Active TSS	HepG2	liver
39	chr16:81466600-81468000	Enhancers	Primary B cells from peripheral blood	blood
40	chr16:81466800-81467000	Flanking Active TSS	Thymus	Thymus
41	chr16:81466800-81467200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:81466800-81467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr16:81466800-81467200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:81466800-81467600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:81466800-81471400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:81466800-81471600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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