Variant report

Variant	rs62080298
Chromosome Location	chr18:9627498-9627499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9627468..9629148-chr18:9631077..9633967,2	MCF-7	breast:
2	chr18:9613984..9616177-chr18:9626000..9628106,2	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs61746389	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61749090	0.96[EUR][1000 genomes]
rs61749091	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62080294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62080299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080302	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080303	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080304	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62080305	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62088867	0.85[AMR][1000 genomes]
rs62088869	0.85[AMR][1000 genomes]
rs62088874	0.85[AMR][1000 genomes]
rs62088882	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62088909	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62088910	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62088911	0.93[EUR][1000 genomes]
rs62088912	0.91[EUR][1000 genomes]
rs62088913	0.91[EUR][1000 genomes]
rs62088914	0.91[EUR][1000 genomes]
rs62088915	0.96[EUR][1000 genomes]
rs62088917	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62088918	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7236182	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3383704	chr18:9625712-9627822	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:9620000-9627600	Weak transcription	NHDF-Ad	bronchial
3	chr18:9620800-9627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:9625200-9628200	Enhancers	NHEK	skin
5	chr18:9625600-9628200	Enhancers	Hela-S3	cervix
6	chr18:9626000-9627600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:9626200-9628200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:9626400-9628000	Weak transcription	Placenta	Placenta
9	chr18:9626800-9628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:9627000-9628000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:9627000-9628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:9627200-9627800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:9627200-9628000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:9627200-9628000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:9627200-9628200	Enhancers	HMEC	breast
16	chr18:9627400-9627600	Enhancers	A549	lung
17	chr18:9627400-9627800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr18:9627400-9627800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:9627400-9628000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:9627400-9628000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:9627400-9628000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr18:9627400-9628000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:9627400-9628000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr18:9627400-9628000	Enhancers	K562	blood
25	chr18:9627400-9628000	Enhancers	NH-A	brain
26	chr18:9627400-9628000	Enhancers	Osteobl	bone
27	chr18:9627400-9628200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr18:9627400-9628200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:9627400-9628200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:9627400-9628200	Enhancers	NHLF	lung

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