Variant report

Variant	rs62521817
Chromosome Location	chr8:124180657-124180658
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124178462..124182512-chr8:124193560..124196504,6	K562	blood:
2	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
3	chr8:124179566..124181513-chr8:124222558..124224233,2	K562	blood:
4	chr8:124174839..124177089-chr8:124178811..124181390,3	K562	blood:
5	chr8:124178849..124184750-chr8:124201276..124205206,6	K562	blood:
6	chr8:124178302..124181222-chr8:124285039..124286646,2	K562	blood:
7	chr8:124178638..124181295-chr8:124284494..124287205,4	K562	blood:
8	chr8:124179501..124182896-chr8:124406235..124411138,4	K562	blood:
9	chr8:124178110..124181504-chr8:124183204..124185869,4	MCF-7	breast:
10	chr8:124047069..124048910-chr8:124178718..124181418,2	K562	blood:
11	chr8:124178373..124181219-chr8:124197748..124199927,3	K562	blood:
12	chr8:124175599..124182947-chr8:124187251..124193031,13	K562	blood:
13	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253258	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000253410	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000221461	Chromatin interaction
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10096018	0.99[ASN][1000 genomes]
rs11780863	0.86[ASN][1000 genomes]
rs1563015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563017	0.99[ASN][1000 genomes]
rs1670173	0.92[ASN][1000 genomes]
rs1670174	0.83[ASN][1000 genomes]
rs1670178	1.00[ASN][1000 genomes]
rs1670182	0.87[ASN][1000 genomes]
rs1713738	1.00[ASN][1000 genomes]
rs17322971	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17323019	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375962	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385072	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616192	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107193	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3107194	0.99[ASN][1000 genomes]
rs3739291	0.87[ASN][1000 genomes]
rs4300008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633424	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55720148	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56069069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521819	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62521820	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521821	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521822	0.99[ASN][1000 genomes]
rs62521823	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001536	0.89[ASN][1000 genomes]
rs7008277	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822076	0.99[ASN][1000 genomes]
rs7831175	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643179	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124176200-124181200	Enhancers	Adipose Nuclei	Adipose
2	chr8:124177000-124181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:124177200-124181200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:124178400-124180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:124178400-124181000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:124178400-124181000	Enhancers	Fetal Intestine Large	intestine
7	chr8:124178400-124181000	Enhancers	HMEC	breast
8	chr8:124178400-124181200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:124178600-124181200	Enhancers	NHDF-Ad	bronchial
10	chr8:124178600-124181400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:124178800-124182200	Weak transcription	Fetal Heart	heart
12	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:124179000-124181000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:124179000-124181400	Enhancers	Fetal Intestine Small	intestine
15	chr8:124179000-124181400	Flanking Active TSS	K562	blood
16	chr8:124179200-124180800	Weak transcription	Right Atrium	heart
17	chr8:124179400-124181000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:124179800-124186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:124180000-124181000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:124180000-124181000	Enhancers	NHEK	skin
21	chr8:124180000-124181000	Enhancers	Osteobl	bone
22	chr8:124180200-124180800	Enhancers	Hela-S3	cervix
23	chr8:124180200-124185200	Weak transcription	A549	lung
24	chr8:124180400-124181400	Enhancers	HepG2	liver
25	chr8:124180600-124181400	Enhancers	Esophagus	oesophagus

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