Variant report

Variant	rs62518688
Chromosome Location	chr8:124935571-124935572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124925782..124927676-chr8:124934703..124936362,2	MCF-7	breast:
2	chr8:124934852..124937473-chr8:124945543..124947894,2	K562	blood:
3	chr8:124934471..124936352-chr8:124945543..124948252,2	K562	blood:
4	chr8:124835624..124840070-chr8:124931025..124937507,8	MCF-7	breast:
5	chr8:124933337..124936476-chr8:125016113..125019961,3	MCF-7	breast:
6	chr8:124929623..124931147-chr8:124932693..124935660,2	K562	blood:
7	chr8:124935254..124937555-chr8:124966756..124968596,2	MCF-7	breast:
8	chr8:124835258..124836544-chr8:124934356..124935690,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214814	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10094501	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106438	0.90[ASN][1000 genomes]
rs17270331	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59882065	0.90[ASN][1000 genomes]
rs60865882	0.90[ASN][1000 genomes]
rs62518726	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998571	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018193	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124931400-124936000	Enhancers	Fetal Intestine Large	intestine
2	chr8:124932600-124935800	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:124933800-124935600	Enhancers	HUVEC	blood vessel
4	chr8:124934800-124935800	Enhancers	Fetal Intestine Small	intestine
5	chr8:124934800-124937400	Weak transcription	Brain Germinal Matrix	brain
6	chr8:124934800-124938200	Enhancers	Fetal Muscle Leg	muscle
7	chr8:124934800-124938600	Weak transcription	Left Ventricle	heart
8	chr8:124934800-124939000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:124934800-124939600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:124935000-124935600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:124935000-124936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:124935000-124936800	Weak transcription	Liver	Liver
13	chr8:124935000-124937000	Weak transcription	A549	lung
14	chr8:124935000-124937400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:124935000-124938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:124935200-124935600	Enhancers	K562	blood
17	chr8:124935200-124936400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:124935200-124936800	Weak transcription	NHDF-Ad	bronchial
19	chr8:124935200-124937000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:124935200-124937000	Weak transcription	Fetal Heart	heart
21	chr8:124935200-124937200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:124935200-124937400	Weak transcription	NHLF	lung
23	chr8:124935200-124938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:124935400-124935600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:124935400-124936800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:124935400-124936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:124935400-124936800	Weak transcription	HSMM	muscle
28	chr8:124935400-124937800	Weak transcription	Stomach Mucosa	stomach
29	chr8:124935400-124938200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:124935400-124938200	Weak transcription	Placenta	Placenta
31	chr8:124935400-124938600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:124935400-124942800	Weak transcription	Rectal Mucosa Donor 31	rectum

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