Variant report

Variant	rs62088913
Chromosome Location	chr18:9616537-9616538
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr18:9616415-9616592	K562	blood:	n/a	n/a
3	GATA1	chr18:9615396-9617194	PBDE	blood:	n/a	n/a
4	POLR2A	chr18:9616500-9617170	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr18:9616328-9616686	K562	blood:	n/a	n/a
6	TEAD4	chr18:9615968-9616931	K562	blood:	n/a	n/a
7	POLR2A	chr18:9616526-9616705	ProgFib	skin:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9616424..9618415-chr18:9912586..9915951,3	MCF-7	breast:
2	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
3	chr18:9615287..9617165-chr18:9631128..9633561,2	K562	blood:
4	chr18:9615576..9617257-chr18:9706860..9708949,2	K562	blood:
5	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
6	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
7	chr18:9615456..9617526-chr18:9895448..9898198,2	K562	blood:

No data

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000168461	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000101558	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs61746389	0.96[EUR][1000 genomes]
rs61749090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61749091	0.96[EUR][1000 genomes]
rs62080294	0.88[EUR][1000 genomes]
rs62080298	0.91[EUR][1000 genomes]
rs62080299	0.91[EUR][1000 genomes]
rs62080302	0.91[EUR][1000 genomes]
rs62080303	0.91[EUR][1000 genomes]
rs62080304	0.84[EUR][1000 genomes]
rs62080305	0.86[EUR][1000 genomes]
rs62088882	0.81[EUR][1000 genomes]
rs62088909	0.81[EUR][1000 genomes]
rs62088910	0.86[EUR][1000 genomes]
rs62088911	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62088912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62088915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62088917	0.93[EUR][1000 genomes]
rs62088918	0.96[EUR][1000 genomes]
rs7236182	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1820504	chr18:9614250-9621841	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1801741	chr18:9614451-9621841	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv521175	chr18:9615851-9623052	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615400-9618200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9615600-9616600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:9615600-9616600	Enhancers	Left Ventricle	heart
4	chr18:9615600-9617000	Enhancers	Brain Substantia Nigra	brain
5	chr18:9615600-9617000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr18:9615600-9617200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:9615600-9617400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:9615600-9617600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:9615600-9617600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr18:9615600-9619200	Weak transcription	GM12878-XiMat	blood
11	chr18:9615800-9616600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:9615800-9616800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr18:9615800-9616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:9615800-9616800	Enhancers	Fetal Brain Female	brain
15	chr18:9615800-9616800	Weak transcription	NH-A	brain
16	chr18:9615800-9617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:9615800-9617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:9615800-9617000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr18:9615800-9617000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr18:9615800-9617000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:9615800-9617000	Enhancers	A549	lung
22	chr18:9615800-9617000	Enhancers	HepG2	liver
23	chr18:9615800-9617400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:9615800-9617400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:9615800-9617400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:9615800-9617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:9615800-9617400	Enhancers	Dnd41	blood
28	chr18:9615800-9617400	Enhancers	Hela-S3	cervix
29	chr18:9615800-9617400	Enhancers	HSMM	muscle
30	chr18:9615800-9617400	Enhancers	NHDF-Ad	bronchial
31	chr18:9615800-9617400	Enhancers	NHLF	lung
32	chr18:9615800-9617400	Enhancers	Osteobl	bone
33	chr18:9615800-9617600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9615800-9617600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr18:9615800-9617600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:9615800-9617600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:9615800-9617600	Enhancers	NHEK	skin
38	chr18:9615800-9619200	Weak transcription	Brain Angular Gyrus	brain
39	chr18:9615800-9619200	Weak transcription	Brain Anterior Caudate	brain
40	chr18:9615800-9619200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr18:9615800-9619200	Weak transcription	Esophagus	oesophagus
42	chr18:9615800-9619200	Enhancers	HUVEC	blood vessel
43	chr18:9615800-9619400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr18:9615800-9619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr18:9615800-9619600	Weak transcription	Fetal Lung	lung
46	chr18:9615800-9619800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
48	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr18:9616000-9617400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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