Variant report

Variant	rs73239052
Chromosome Location	chr8:66557822-66557823
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
2	chr8:66557768..66559368-chr8:66571050..66573151,2	K562	blood:
3	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:
4	chr8:66557301..66560077-chr8:66580234..66581875,2	K562	blood:
5	chr8:66556998..66559111-chr8:66700750..66703642,2	K562	blood:
6	chr8:66557209..66557843-chr8:66618071..66618941,5	MCF-7	breast:
7	chr8:66555236..66558809-chr8:66619620..66621771,3	K562	blood:
8	chr8:66555940..66558809-chr8:66619620..66621771,2	K562	blood:
9	chr8:66557005..66560077-chr8:66579109..66581875,3	K562	blood:
10	chr8:66557149..66559790-chr8:66561450..66563071,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066855	Chromatin interaction
ENSG00000205268	Chromatin interaction
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10089708	0.83[AFR][1000 genomes]
rs1022253	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022254	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995337	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932286	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16932294	1.00[ASN][1000 genomes]
rs17303905	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394860	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394924	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2175810	0.83[AFR][1000 genomes]
rs2357478	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35524385	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41343545	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497004	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698878	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57220512	0.90[ASN][1000 genomes]
rs57962817	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58398396	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58594670	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60824178	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66773449	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66817670	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66820398	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66824691	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66901832	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66908793	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67125822	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67202221	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67362541	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67433957	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67445866	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67514002	1.00[ASN][1000 genomes]
rs67578481	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67669255	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67686346	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs67692803	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827113	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68075342	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68087267	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68167505	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991669	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991731	0.83[AFR][1000 genomes]
rs7002171	1.00[ASN][1000 genomes]
rs7002494	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002953	1.00[ASN][1000 genomes]
rs72666512	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72666522	1.00[ASN][1000 genomes]
rs72666525	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239047	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73239095	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240732	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463538	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825615	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842162	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66555400-66558200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:66555400-66558600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:66555600-66558000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:66555600-66558000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:66555600-66558000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:66555600-66558000	Active TSS	Colon Smooth Muscle	Colon
7	chr8:66555600-66558000	Active TSS	Fetal Lung	lung
8	chr8:66555600-66558200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:66555800-66558000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:66555800-66558000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:66555800-66558000	Active TSS	Aorta	Aorta
12	chr8:66555800-66558200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:66555800-66558200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:66555800-66558200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:66555800-66558200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:66555800-66558200	Active TSS	Right Ventricle	heart
17	chr8:66555800-66558200	Active TSS	NHDF-Ad	bronchial
18	chr8:66556000-66558000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:66556000-66558000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:66556000-66558000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:66556000-66558200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:66556000-66558200	Active TSS	A549	lung
23	chr8:66556000-66558200	Active TSS	HSMM	muscle
24	chr8:66556000-66558600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr8:66556200-66558000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:66556200-66558000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:66556200-66558000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:66556200-66558000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:66556200-66558000	Active TSS	HSMMtube	muscle
30	chr8:66556200-66558200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:66556200-66558200	Active TSS	Fetal Brain Female	brain
32	chr8:66556400-66558000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:66556400-66558000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:66556400-66558000	Active TSS	Brain Substantia Nigra	brain
35	chr8:66556400-66558000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr8:66556600-66558000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:66556600-66558000	Active TSS	Brain Hippocampus Middle	brain
38	chr8:66556600-66558000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:66556600-66558000	Active TSS	NHLF	lung
40	chr8:66556600-66558400	Active TSS	K562	blood
41	chr8:66556600-66558600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr8:66556800-66558000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:66556800-66558000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:66556800-66558000	Active TSS	Adipose Nuclei	Adipose
45	chr8:66556800-66558000	Active TSS	Hela-S3	cervix
46	chr8:66556800-66558000	Active TSS	NH-A	brain
47	chr8:66556800-66558200	Active TSS	NHEK	skin
48	chr8:66556800-66558200	Active TSS	Osteobl	bone
49	chr8:66556800-66558400	Active TSS	HMEC	breast
50	chr8:66557200-66558200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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