Variant report

Variant	rs72726214
Chromosome Location	chr8:131433290-131433291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131419011..131421819-chr8:131431981..131433568,2	K562	blood:
2	chr8:131423687..131425231-chr8:131431826..131434765,2	MCF-7	breast:
3	chr8:131432091..131434122-chr8:131465093..131468070,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11780644	0.95[EUR][1000 genomes]
rs34179841	0.92[EUR][1000 genomes]
rs35220844	0.92[EUR][1000 genomes]
rs4301463	0.81[EUR][1000 genomes]
rs59710753	0.81[EUR][1000 genomes]
rs60744896	0.92[EUR][1000 genomes]
rs6470821	0.89[EUR][1000 genomes]
rs6997802	0.81[EUR][1000 genomes]
rs7011034	0.91[ASN][1000 genomes]
rs72724478	0.92[EUR][1000 genomes]
rs72724485	0.92[EUR][1000 genomes]
rs72726218	0.92[EUR][1000 genomes]
rs72726219	0.84[EUR][1000 genomes]
rs72726221	0.82[EUR][1000 genomes]
rs72726230	0.82[EUR][1000 genomes]
rs7461213	0.91[ASN][1000 genomes]
rs7461215	0.91[ASN][1000 genomes]
rs7816470	0.85[EUR][1000 genomes]
rs7817038	0.85[EUR][1000 genomes]
rs7834677	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
3	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:131424600-131433800	Weak transcription	HepG2	liver
5	chr8:131427800-131433400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:131428200-131435200	Enhancers	Left Ventricle	heart
7	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
9	chr8:131429200-131434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
11	chr8:131429400-131434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:131429400-131436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:131429400-131440200	Weak transcription	Pancreas	Pancrea
14	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:131429400-131447200	Weak transcription	Gastric	stomach
16	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:131429600-131433800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:131429600-131438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:131430400-131433800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:131430400-131434200	Weak transcription	HSMM	muscle
22	chr8:131430400-131434400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:131431000-131435200	Enhancers	Right Atrium	heart
24	chr8:131431400-131433800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:131431600-131442600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:131431800-131433800	Enhancers	Spleen	Spleen
27	chr8:131432000-131433800	Weak transcription	Brain Substantia Nigra	brain
28	chr8:131432000-131434000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:131432000-131434400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:131432000-131434400	Weak transcription	Esophagus	oesophagus
31	chr8:131432000-131436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:131432000-131438800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
34	chr8:131432200-131433400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:131432200-131433400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:131432200-131433400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:131432200-131433400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131432200-131433600	Weak transcription	Lung	lung
39	chr8:131432200-131434200	Enhancers	HUVEC	blood vessel
40	chr8:131432200-131436600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:131432200-131439800	Weak transcription	NHDF-Ad	bronchial
42	chr8:131432200-131449400	Weak transcription	Ovary	ovary
43	chr8:131432400-131433400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:131432400-131433400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:131432400-131433600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:131432400-131436400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:131432400-131438200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:131432400-131441600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:131432400-131441600	Weak transcription	Osteobl	bone
50	chr8:131432400-131442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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