Variant report

Variant	rs73549276
Chromosome Location	chr16:58740967-58740968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:58739390..58742462-chr16:58745001..58747793,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11861897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13334922	0.92[AFR][1000 genomes]
rs28497727	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28714090	0.89[AMR][1000 genomes]
rs6499970	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7186105	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7202491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549271	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060056	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9923914	0.89[AMR][1000 genomes]
rs9927670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58719200-58741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:58733400-58741000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:58735800-58752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:58736200-58741200	Weak transcription	Osteobl	bone
5	chr16:58737400-58741800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:58737600-58742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:58737600-58743000	Weak transcription	HUVEC	blood vessel
8	chr16:58738200-58757800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:58738200-58758000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:58738400-58759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:58738400-58766600	Weak transcription	Stomach Mucosa	stomach
12	chr16:58738600-58741000	Weak transcription	Gastric	stomach
13	chr16:58738800-58741000	Weak transcription	NHLF	lung
14	chr16:58739000-58741200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:58739000-58743600	Strong transcription	Fetal Thymus	thymus
16	chr16:58739000-58745000	Weak transcription	Colonic Mucosa	Colon
17	chr16:58739000-58746200	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:58739000-58757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:58739200-58741000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:58739200-58743400	Weak transcription	Fetal Kidney	kidney
21	chr16:58739200-58743800	Strong transcription	Brain Anterior Caudate	brain
22	chr16:58739200-58744200	Strong transcription	HMEC	breast
23	chr16:58739200-58745200	Weak transcription	HSMMtube	muscle
24	chr16:58739200-58746400	Strong transcription	Brain Hippocampus Middle	brain
25	chr16:58739200-58750400	Strong transcription	Fetal Stomach	stomach
26	chr16:58739200-58758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:58739200-58758000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr16:58739200-58758400	Strong transcription	Primary T cells from cord blood	blood
29	chr16:58739200-58759000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:58739200-58759600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:58739400-58741000	Weak transcription	NHDF-Ad	bronchial
32	chr16:58739400-58743600	Strong transcription	Lung	lung
33	chr16:58739400-58747800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:58739400-58752000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr16:58739400-58758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:58739600-58742400	Strong transcription	Pancreas	Pancrea
37	chr16:58739600-58742600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:58739600-58743800	Strong transcription	NHEK	skin
39	chr16:58739600-58744000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:58739600-58744000	Strong transcription	Fetal Brain Female	brain
41	chr16:58739600-58744000	Strong transcription	A549	lung
42	chr16:58739600-58744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:58739600-58746400	Strong transcription	K562	blood
44	chr16:58739600-58748200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr16:58739600-58753000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr16:58739600-58757600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:58739600-58757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:58739600-58758000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr16:58739600-58758200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:58739600-58758400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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