Variant report

Variant	rs16945402
Chromosome Location	chr16:47581885-47581886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16945398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945483	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945540	1.00[AMR][1000 genomes]
rs16955741	1.00[AMR][1000 genomes]
rs4324153	1.00[AMR][1000 genomes]
rs7200023	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205849	1.00[AMR][1000 genomes]
rs8044898	1.00[AFR][1000 genomes]
rs8049167	1.00[AFR][1000 genomes]
rs8054041	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058408	1.00[AMR][1000 genomes]
rs8061091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063586	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	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
8	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
9	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
10	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
11	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
12	nsv1059367	chr16:47524706-47586335	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv2761905	chr16:47524718-47586347	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47539400-47599000	Weak transcription	NHEK	skin
2	chr16:47548800-47605000	Weak transcription	Right Ventricle	heart
3	chr16:47553600-47599000	Weak transcription	NHLF	lung
4	chr16:47557400-47583400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:47558000-47587400	Weak transcription	A549	lung
6	chr16:47572600-47584000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:47573400-47584800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:47574000-47584000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:47577200-47588800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:47579400-47587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:47579600-47584200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr16:47579800-47582000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:47579800-47582000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr16:47580000-47582000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr16:47580000-47582000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:47580000-47584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:47580000-47599200	Weak transcription	Osteobl	bone
18	chr16:47580200-47582200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr16:47580200-47582200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr16:47580200-47582400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:47580200-47582600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr16:47580200-47584800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr16:47580200-47593400	Weak transcription	Psoas Muscle	Psoas
24	chr16:47580400-47582000	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr16:47580400-47582400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr16:47580600-47582000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr16:47580600-47582200	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr16:47580600-47582200	ZNF genes & repeats	Fetal Lung	lung
29	chr16:47580600-47584600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:47580800-47582000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr16:47580800-47582000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:47580800-47582000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:47580800-47582000	Strong transcription	K562	blood
34	chr16:47580800-47585000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr16:47581000-47582000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr16:47581000-47582000	Strong transcription	Fetal Thymus	thymus
37	chr16:47581000-47582000	Strong transcription	Gastric	stomach
38	chr16:47581000-47582000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:47581000-47582200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr16:47581000-47582200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:47581000-47582400	Strong transcription	Left Ventricle	heart
42	chr16:47581000-47582600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr16:47581000-47582800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:47581000-47583000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:47581000-47583200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr16:47581000-47584000	Strong transcription	Primary B cells from cord blood	blood
47	chr16:47581000-47584000	Weak transcription	Fetal Brain Male	brain
48	chr16:47581000-47584600	Strong transcription	HepG2	liver
49	chr16:47581000-47587600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:47581000-47596000	Weak transcription	Brain Anterior Caudate	brain

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