Variant report

Variant	rs2857614
Chromosome Location	chr16:47575001-47575002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1200996	1.00[AFR][1000 genomes]
rs1420670	0.90[AFR][1000 genomes]
rs6598578	1.00[AFR][1000 genomes]
rs7194003	0.90[AFR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47539200-47580400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:47539400-47599000	Weak transcription	NHEK	skin
3	chr16:47548800-47605000	Weak transcription	Right Ventricle	heart
4	chr16:47549200-47580600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:47550600-47580400	Weak transcription	NHDF-Ad	bronchial
6	chr16:47553600-47599000	Weak transcription	NHLF	lung
7	chr16:47554600-47576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr16:47554800-47581400	Weak transcription	Fetal Heart	heart
9	chr16:47557400-47583400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:47558000-47587400	Weak transcription	A549	lung
11	chr16:47566600-47578400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr16:47566600-47580400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:47567200-47579800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr16:47567200-47580400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:47567600-47580400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:47567600-47580400	Weak transcription	Ovary	ovary
17	chr16:47567600-47580600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:47567800-47580200	Weak transcription	Fetal Thymus	thymus
19	chr16:47567800-47580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:47567800-47580400	Weak transcription	Pancreas	Pancrea
21	chr16:47567800-47580600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:47568000-47580400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:47568200-47580400	Weak transcription	Aorta	Aorta
24	chr16:47570800-47575600	Weak transcription	HSMMtube	muscle
25	chr16:47571200-47575200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:47571200-47575800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:47571800-47575200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr16:47571800-47575200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:47572400-47575200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:47572400-47575400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr16:47572600-47575200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:47572600-47584000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:47572800-47578200	Weak transcription	Primary T cells from cord blood	blood
34	chr16:47572800-47580800	Weak transcription	K562	blood
35	chr16:47572800-47581600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:47573200-47575200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr16:47573200-47580000	Weak transcription	Fetal Intestine Large	intestine
38	chr16:47573400-47580400	Weak transcription	HepG2	liver
39	chr16:47573400-47581400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:47573400-47584800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr16:47573800-47575200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:47573800-47575200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr16:47574000-47575600	Strong transcription	Liver	Liver
44	chr16:47574000-47581600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:47574000-47584000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:47574400-47580200	Weak transcription	Colonic Mucosa	Colon
47	chr16:47574600-47580600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:47574800-47575200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:47574800-47575200	Strong transcription	Left Ventricle	heart
50	chr16:47574800-47576000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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