Variant report

Variant	rs72787046
Chromosome Location	chr16:72079342-72079343
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	chr16:72071921..72074280-chr16:72078965..72081743,2	K562	blood:
2	chr16:72079240..72082206-chr16:72084607..72086116,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11075919	0.81[EUR][1000 genomes]
rs11640722	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11641424	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641721	0.84[AMR][1000 genomes]
rs11646364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11647889	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648479	0.84[AMR][1000 genomes]
rs1424241	0.80[EUR][1000 genomes]
rs17603936	0.84[AMR][1000 genomes]
rs34832584	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35370634	0.84[AMR][1000 genomes]
rs3852780	0.92[ASN][1000 genomes]
rs3852785	0.81[AMR][1000 genomes]
rs398580	0.91[ASN][1000 genomes]
rs4788459	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788605	0.84[AMR][1000 genomes]
rs4788611	0.84[AMR][1000 genomes]
rs4788615	0.84[AMR][1000 genomes]
rs5468	0.84[ASN][1000 genomes]
rs55824906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387295	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6499558	0.81[EUR][1000 genomes]
rs72787027	0.89[AFR][1000 genomes]
rs72787028	0.89[AFR][1000 genomes]
rs72787038	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72787042	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787058	0.81[AMR][1000 genomes]
rs72787060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787062	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72787070	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72787077	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72787078	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72787085	0.84[AMR][1000 genomes]
rs72787091	0.84[AMR][1000 genomes]
rs72787093	0.84[AMR][1000 genomes]
rs72787094	0.84[AMR][1000 genomes]
rs7499467	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 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	chr16:72059600-72084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:72060200-72080000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
5	chr16:72062200-72079600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:72062200-72080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:72062600-72079800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:72063800-72079800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:72075600-72079600	Enhancers	HepG2	liver
10	chr16:72076200-72098200	Weak transcription	Fetal Heart	heart
11	chr16:72076600-72084600	Weak transcription	Lung	lung
12	chr16:72076600-72092400	Weak transcription	Left Ventricle	heart
13	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
14	chr16:72077200-72080000	Weak transcription	Fetal Muscle Leg	muscle
15	chr16:72077400-72079800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr16:72077400-72081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:72077400-72082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr16:72077400-72084000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr16:72077400-72102400	Weak transcription	Brain Substantia Nigra	brain
20	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:72077600-72084400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:72077800-72079600	Weak transcription	Brain Germinal Matrix	brain
24	chr16:72078000-72079600	Weak transcription	Fetal Brain Female	brain
25	chr16:72078000-72080200	Weak transcription	Thymus	Thymus
26	chr16:72078000-72080400	Weak transcription	Fetal Intestine Small	intestine
27	chr16:72078000-72080800	Weak transcription	Ovary	ovary
28	chr16:72078000-72083600	Weak transcription	Primary B cells from cord blood	blood
29	chr16:72078000-72084400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:72078000-72090000	Weak transcription	Gastric	stomach
31	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:72078200-72080200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr16:72078200-72095600	Weak transcription	Brain Anterior Caudate	brain
35	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
36	chr16:72078400-72081600	Weak transcription	Fetal Stomach	stomach
37	chr16:72078400-72084600	Weak transcription	Adipose Nuclei	Adipose
38	chr16:72078400-72098400	Weak transcription	Primary T cells from cord blood	blood
39	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
41	chr16:72078600-72080000	Enhancers	Liver	Liver
42	chr16:72078600-72083200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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