Variant report

Variant	rs2045039
Chromosome Location	chr16:81111717-81111718
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81110124-81111815	IMR90	lung:	n/a	n/a
2	POLR2A	chr16:81111706-81111791	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr16:81111717-81111940	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr16:81110156-81112906	K562	blood:	n/a	n/a
5	POLR2A	chr16:81109812-81111794	HepG2	liver:	n/a	n/a
6	FOSL2	chr16:81110125-81111748	HepG2	liver:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81073990..81076535-chr16:81110612..81112776,2	MCF-7	breast:
2	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:
3	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
4	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
5	chr16:81096522..81104265-chr16:81107324..81112531,10	MCF-7	breast:
6	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:
7	chr16:81102378..81105736-chr16:81109275..81112562,6	K562	blood:
8	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
9	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
10	chr16:81110316..81112473-chr16:81346981..81348533,2	MCF-7	breast:
11	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
12	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
13	chr16:81109214..81111850-chr16:81221258..81223565,2	MCF-7	breast:
14	chr16:81102378..81105736-chr16:81109334..81111887,5	K562	blood:
15	chr16:81110779..81112641-chr16:81230562..81234042,3	MCF-7	breast:
16	chr16:81109389..81113385-chr16:81129533..81131576,3	K562	blood:
17	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
18	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:

No data

Variant related genes	Relation type
C16orf46	TF binding region
ENSG00000260495	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1563072	0.82[YRI][hapmap]
rs2316728	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2549902	0.84[AFR][1000 genomes]
rs4889226	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889232	0.85[AFR][1000 genomes]
rs5023851	0.81[AFR][1000 genomes]
rs6564818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187102	0.82[AFR][1000 genomes]
rs804900	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804901	0.85[AFR][1000 genomes]
rs811704	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs8177931	0.85[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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81109800-81111800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:81109800-81112000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr16:81111200-81111800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:81111200-81111800	Flanking Active TSS	Liver	Liver
5	chr16:81111200-81111800	Flanking Active TSS	Hela-S3	cervix
6	chr16:81111200-81111800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr16:81111400-81111800	Enhancers	Fetal Brain Male	brain
8	chr16:81111400-81111800	Enhancers	Fetal Thymus	thymus
9	chr16:81111400-81114000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:81111400-81114800	Weak transcription	Fetal Lung	lung
11	chr16:81111400-81115000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:81111400-81116800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:81111400-81117200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:81111400-81122400	Weak transcription	Lung	lung
15	chr16:81111400-81122600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:81111400-81122800	Weak transcription	Ovary	ovary
17	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
19	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
21	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
22	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:81111400-81129000	Weak transcription	Gastric	stomach
24	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:81111600-81111800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:81111600-81111800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:81111600-81111800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr16:81111600-81111800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr16:81111600-81111800	Enhancers	Primary B cells from cord blood	blood
30	chr16:81111600-81111800	Enhancers	Primary hematopoietic stem cells	blood
31	chr16:81111600-81111800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr16:81111600-81111800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr16:81111600-81111800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr16:81111600-81111800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr16:81111600-81111800	Enhancers	Fetal Muscle Leg	muscle
36	chr16:81111600-81111800	Enhancers	Dnd41	blood
37	chr16:81111600-81112000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:81111600-81112000	Enhancers	HepG2	liver
39	chr16:81111600-81112400	Enhancers	K562	blood
40	chr16:81111600-81113800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:81111600-81114000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:81111600-81114600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:81111600-81114800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr16:81111600-81114800	Weak transcription	A549	lung
45	chr16:81111600-81115000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:81111600-81115200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr16:81111600-81115400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:81111600-81116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr16:81111600-81116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:81111600-81116800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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