Variant report

Variant	rs2052579
Chromosome Location	chr16:72044005-72044006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:72043456-72044069	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72042919..72045492-chr16:72049478..72051025,2	K562	blood:
2	chr16:72042016..72045516-chr16:72126835..72130601,4	K562	blood:
3	chr16:71927023..71929738-chr16:72042635..72044988,2	K562	blood:
4	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
5	chr16:71927888..71929610-chr16:72042486..72044051,2	MCF-7	breast:
6	chr16:72040983..72044286-chr16:72126039..72129128,5	MCF-7	breast:
7	chr16:71928144..71931559-chr16:72041567..72044276,4	MCF-7	breast:
8	chr16:72025366..72027276-chr16:72042848..72045170,2	MCF-7	breast:
9	chr16:71840992..71843295-chr16:72041440..72044182,2	K562	blood:

No data

Variant related genes	Relation type
ATP5A1P3	TF binding region
DHODH	TF binding region
ENSG00000102984	Chromatin interaction
ENSG00000102967	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000140829	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000140830	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1364261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs152837	0.93[EUR][1000 genomes]
rs17668523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1820249	0.93[EUR][1000 genomes]
rs30437	1.00[AFR][1000 genomes]
rs42544	1.00[AFR][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	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking 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	28 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv906894	chr16:72013539-72046211	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
9	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043000-72046000	Weak transcription	Spleen	Spleen
2	chr16:72043000-72046800	Weak transcription	Fetal Heart	heart
3	chr16:72043000-72049600	Weak transcription	Aorta	Aorta
4	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
5	chr16:72043200-72044200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:72043200-72044600	Enhancers	Primary T cells from cord blood	blood
7	chr16:72043200-72045200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:72043200-72045600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:72043200-72045600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:72043200-72045600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:72043200-72045600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:72043200-72045600	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:72043200-72045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:72043200-72045800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:72043200-72045800	Weak transcription	Fetal Intestine Small	intestine
16	chr16:72043200-72045800	Weak transcription	Fetal Stomach	stomach
17	chr16:72043200-72046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:72043200-72046000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:72043200-72046000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:72043200-72046000	Weak transcription	Fetal Intestine Large	intestine
21	chr16:72043200-72046000	Weak transcription	Right Atrium	heart
22	chr16:72043200-72046000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:72043200-72046200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr16:72043200-72046200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:72043200-72046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:72043200-72046200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:72043200-72046400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:72043200-72046400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:72043200-72046400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:72043200-72046400	Weak transcription	Brain Anterior Caudate	brain
31	chr16:72043200-72046400	Weak transcription	Brain Germinal Matrix	brain
32	chr16:72043200-72046400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr16:72043200-72046400	Weak transcription	Esophagus	oesophagus
34	chr16:72043200-72046400	Weak transcription	Fetal Brain Female	brain
35	chr16:72043200-72046400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:72043200-72046400	Weak transcription	NHEK	skin
37	chr16:72043200-72046400	Weak transcription	NHLF	lung
38	chr16:72043200-72046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:72043200-72046600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr16:72043200-72046600	Weak transcription	Left Ventricle	heart
41	chr16:72043200-72046800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:72043200-72046800	Weak transcription	Right Ventricle	heart
43	chr16:72043200-72047000	Weak transcription	Placenta	Placenta
44	chr16:72043200-72047000	Weak transcription	Ovary	ovary
45	chr16:72043200-72047000	Weak transcription	Stomach Mucosa	stomach
46	chr16:72043200-72047200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:72043200-72047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr16:72043200-72047200	Weak transcription	Adipose Nuclei	Adipose
49	chr16:72043200-72047200	Weak transcription	Brain Hippocampus Middle	brain
50	chr16:72043200-72047200	Weak transcription	Lung	lung

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