Variant report

Variant	rs72720596
Chromosome Location	chr8:126345480-126345481
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126345442..126348175-chr8:126352080..126354376,2	MCF-7	breast:
2	chr8:126344683..126349065-chr8:126441599..126445443,4	MCF-7	breast:
3	chr8:126338417..126342692-chr8:126345063..126348300,5	K562	blood:
4	chr8:126342278..126347810-chr8:126440203..126444121,7	K562	blood:
5	chr8:126344931..126347810-chr8:126440770..126444279,4	K562	blood:
6	chr8:126345301..126349169-chr8:126355838..126358002,3	K562	blood:
7	chr8:126341644..126344065-chr8:126344220..126347316,3	K562	blood:
8	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
9	chr8:126345301..126348257-chr8:126356475..126358002,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12541675	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545844	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549614	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16893118	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900538	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16900559	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900568	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385094	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28895930	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309384	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871583	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55808842	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913855	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994510	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015929	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720595	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72720597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722603	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722605	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722614	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722617	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332400-126345600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
8	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
9	chr8:126335600-126346000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
12	chr8:126339400-126346200	Weak transcription	Thymus	Thymus
13	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
14	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:126340800-126346200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:126340800-126347400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:126341200-126346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:126341400-126346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:126341400-126346000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:126341400-126346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:126341400-126346600	Weak transcription	Right Atrium	heart
22	chr8:126341600-126346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:126341600-126346000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:126341600-126346000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:126341600-126346000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:126341600-126346000	Weak transcription	HSMM	muscle
27	chr8:126341600-126346200	Weak transcription	NHLF	lung
28	chr8:126341600-126346400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:126341600-126354200	Weak transcription	Lung	lung
30	chr8:126341800-126346200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:126342000-126346000	Weak transcription	Fetal Thymus	thymus
32	chr8:126342000-126346200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:126342000-126346600	Weak transcription	Left Ventricle	heart
34	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:126343000-126346200	Weak transcription	Brain Substantia Nigra	brain
37	chr8:126343200-126346000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:126343400-126346000	Enhancers	K562	blood
39	chr8:126344000-126346200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:126344000-126347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:126344400-126345600	Enhancers	Adipose Nuclei	Adipose
42	chr8:126344400-126352200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:126344600-126346800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:126344600-126347000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
46	chr8:126344800-126345600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:126344800-126345600	Enhancers	NH-A	brain
48	chr8:126344800-126345600	Enhancers	Osteobl	bone
49	chr8:126344800-126345800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:126344800-126346200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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