Variant report

Variant	rs72800651
Chromosome Location	chr16:47461582-47461583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11644557	1.00[AFR][1000 genomes]
rs11648954	0.85[AMR][1000 genomes]
rs17738182	1.00[AFR][1000 genomes]
rs17738933	1.00[AFR][1000 genomes]
rs17740153	1.00[AFR][1000 genomes]
rs72800632	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72800679	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv428656	chr16:47316866-47469918	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
13	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47426400-47482800	Weak transcription	NH-A	brain
2	chr16:47430400-47485600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:47431600-47478200	Weak transcription	K562	blood
4	chr16:47431800-47470000	Weak transcription	Psoas Muscle	Psoas
5	chr16:47442600-47483800	Weak transcription	Hela-S3	cervix
6	chr16:47445400-47482600	Weak transcription	NHEK	skin
7	chr16:47445800-47483800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:47447800-47471800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:47449000-47461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:47451600-47484000	Weak transcription	Small Intestine	intestine
11	chr16:47452800-47463600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:47452800-47465000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:47453400-47463400	Weak transcription	Fetal Heart	heart
14	chr16:47456400-47461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:47458000-47463800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:47458000-47464200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:47458200-47462000	Strong transcription	Adipose Nuclei	Adipose
18	chr16:47458200-47462000	Strong transcription	Fetal Intestine Large	intestine
19	chr16:47458200-47462000	Strong transcription	Fetal Muscle Leg	muscle
20	chr16:47458200-47462000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr16:47458200-47462200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:47458200-47462200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:47458200-47462200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr16:47458200-47462200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:47458200-47462200	Strong transcription	Left Ventricle	heart
26	chr16:47458200-47463200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:47458200-47463200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:47458200-47463400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:47458200-47464000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:47458400-47462000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr16:47458400-47462000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr16:47458400-47462200	Weak transcription	HUVEC	blood vessel
33	chr16:47458400-47462600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:47458400-47464400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:47458600-47462000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:47458600-47462000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:47458600-47462200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:47458600-47462200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:47458600-47462200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr16:47458600-47462200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:47458600-47462600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:47458600-47462800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:47458600-47463200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:47458600-47463200	Strong transcription	Liver	Liver
45	chr16:47458600-47463800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:47458600-47464200	Strong transcription	Primary T cells from cord blood	blood
47	chr16:47458800-47461800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:47458800-47461800	Strong transcription	Spleen	Spleen
49	chr16:47458800-47462000	Strong transcription	Fetal Lung	lung
50	chr16:47458800-47462200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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