Variant report

Variant	rs73280233
Chromosome Location	chr17:16003948-16003949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12103931	1.00[EUR][1000 genomes]
rs2228101	1.00[EUR][1000 genomes]
rs57479165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58182068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58206797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58517927	0.83[AMR][1000 genomes]
rs58678411	1.00[EUR][1000 genomes]
rs59239162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59242320	1.00[EUR][1000 genomes]
rs59543390	1.00[EUR][1000 genomes]
rs59647552	1.00[EUR][1000 genomes]
rs59805617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60314157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60453431	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60636875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812331	1.00[EUR][1000 genomes]
rs60842225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61374610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61478648	1.00[EUR][1000 genomes]
rs7209874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7209920	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211406	1.00[EUR][1000 genomes]
rs73274366	1.00[EUR][1000 genomes]
rs73274391	1.00[EUR][1000 genomes]
rs73274394	1.00[EUR][1000 genomes]
rs73276038	1.00[EUR][1000 genomes]
rs73276041	1.00[EUR][1000 genomes]
rs73276049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276059	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278190	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280217	1.00[EUR][1000 genomes]
rs73280221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280227	1.00[EUR][1000 genomes]
rs73280237	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280240	1.00[EUR][1000 genomes]
rs73280256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280272	1.00[EUR][1000 genomes]
rs73280300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281909	1.00[EUR][1000 genomes]
rs73281922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
7	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
8	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv1792054	chr17:15934025-16010920	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv1802470	chr17:15976558-16004368	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv907711	chr17:15978663-16092902	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv907712	chr17:15981874-16103426	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	nsv907714	chr17:15990013-16110384	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15968000-16004600	Weak transcription	Stomach Mucosa	stomach
2	chr17:15995400-16004800	Weak transcription	K562	blood
3	chr17:15995400-16021400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:15999400-16005200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:15999400-16005200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr17:15999400-16005400	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr17:15999400-16005400	Strong transcription	Dnd41	blood
8	chr17:15999400-16005800	Strong transcription	Fetal Thymus	thymus
9	chr17:15999400-16008400	Strong transcription	Placenta	Placenta
10	chr17:15999400-16009200	Strong transcription	Osteobl	bone
11	chr17:15999400-16012200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:15999400-16012200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr17:15999400-16052400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:15999600-16005200	Strong transcription	Liver	Liver
15	chr17:15999600-16005400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:15999800-16005000	Strong transcription	Primary B cells from cord blood	blood
17	chr17:15999800-16005200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:15999800-16005200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:15999800-16005200	Strong transcription	Primary hematopoietic stem cells	blood
20	chr17:15999800-16005200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:15999800-16005200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:15999800-16005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:15999800-16005200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr17:15999800-16005200	Strong transcription	A549	lung
25	chr17:15999800-16005200	Strong transcription	NH-A	brain
26	chr17:15999800-16005600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:15999800-16005600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr17:15999800-16012200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:15999800-16012200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr17:15999800-16012400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr17:15999800-16012400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:15999800-16012400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:15999800-16012400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr17:15999800-16047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr17:16000000-16005000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr17:16000000-16005200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:16000000-16005200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:16000000-16005200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:16000000-16005400	Strong transcription	Fetal Lung	lung
40	chr17:16000200-16005200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:16000200-16013000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:16000600-16005400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:16000600-16005600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:16000800-16018000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr17:16001000-16004600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr17:16001000-16005000	Strong transcription	HUVEC	blood vessel
47	chr17:16001000-16012400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:16001200-16009800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:16001400-16004200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:16001400-16004200	Weak transcription	Esophagus	oesophagus

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