Variant report

Variant	rs28483075
Chromosome Location	chr16:72045437-72045438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:72045321-72045478	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:72045322-72048851	PBDE	blood:	n/a	n/a

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	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:

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

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1049933	0.85[AMR][1000 genomes]
rs12325171	0.85[AMR][1000 genomes]
rs12325593	0.85[AMR][1000 genomes]
rs13333207	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334681	0.85[AMR][1000 genomes]
rs13335854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338949	0.85[AMR][1000 genomes]
rs16970697	0.85[AMR][1000 genomes]
rs16973640	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16973723	0.85[AMR][1000 genomes]
rs28455724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507713	0.85[AMR][1000 genomes]
rs28557204	0.85[AMR][1000 genomes]
rs28610193	0.86[AFR][1000 genomes]
rs28639994	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35184823	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56978453	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57024912	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61074815	0.85[AMR][1000 genomes]
rs7186448	0.85[AMR][1000 genomes]
rs7188150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188462	0.85[AMR][1000 genomes]
rs7189506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191270	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7191499	0.85[AMR][1000 genomes]
rs7194569	0.85[AMR][1000 genomes]
rs7203195	0.85[AMR][1000 genomes]
rs73578560	0.85[AMR][1000 genomes]
rs73580679	0.85[AMR][1000 genomes]
rs73582412	0.85[AMR][1000 genomes]
rs8045316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052025	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8055216	0.85[AMR][1000 genomes]
rs8056409	0.86[AFR][1000 genomes]
rs8056752	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8057379	0.85[AMR][1000 genomes]
rs8061292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921752	0.85[AMR][1000 genomes]
rs9923961	0.85[AMR][1000 genomes]
rs9925476	0.85[AMR][1000 genomes]
rs9925493	0.85[AMR][1000 genomes]
rs9932236	0.85[AMR][1000 genomes]
rs9934521	0.85[AMR][1000 genomes]
rs9940996	0.85[AMR][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	chr16:72043200-72045600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:72043200-72045600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:72043200-72045600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:72043200-72045600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:72043200-72045600	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:72043200-72045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:72043200-72045800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:72043200-72045800	Weak transcription	Fetal Intestine Small	intestine
13	chr16:72043200-72045800	Weak transcription	Fetal Stomach	stomach
14	chr16:72043200-72046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:72043200-72046000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr16:72043200-72046000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:72043200-72046000	Weak transcription	Fetal Intestine Large	intestine
18	chr16:72043200-72046000	Weak transcription	Right Atrium	heart
19	chr16:72043200-72046000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:72043200-72046200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:72043200-72046200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:72043200-72046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:72043200-72046200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:72043200-72046400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:72043200-72046400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:72043200-72046400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr16:72043200-72046400	Weak transcription	Brain Anterior Caudate	brain
28	chr16:72043200-72046400	Weak transcription	Brain Germinal Matrix	brain
29	chr16:72043200-72046400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:72043200-72046400	Weak transcription	Esophagus	oesophagus
31	chr16:72043200-72046400	Weak transcription	Fetal Brain Female	brain
32	chr16:72043200-72046400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:72043200-72046400	Weak transcription	NHEK	skin
34	chr16:72043200-72046400	Weak transcription	NHLF	lung
35	chr16:72043200-72046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:72043200-72046600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr16:72043200-72046600	Weak transcription	Left Ventricle	heart
38	chr16:72043200-72046800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:72043200-72046800	Weak transcription	Right Ventricle	heart
40	chr16:72043200-72047000	Weak transcription	Placenta	Placenta
41	chr16:72043200-72047000	Weak transcription	Ovary	ovary
42	chr16:72043200-72047000	Weak transcription	Stomach Mucosa	stomach
43	chr16:72043200-72047200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:72043200-72047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:72043200-72047200	Weak transcription	Adipose Nuclei	Adipose
46	chr16:72043200-72047200	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:72043200-72047200	Weak transcription	Lung	lung
48	chr16:72043200-72047200	Weak transcription	Psoas Muscle	Psoas
49	chr16:72043200-72047200	Weak transcription	HSMMtube	muscle
50	chr16:72043200-72047200	Weak transcription	Osteobl	bone

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