Variant report

Variant	rs72726224
Chromosome Location	chr8:131444667-131444668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:131444573-131446208	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:131442973..131445344-chr8:131451202..131452908,2	MCF-7	breast:
2	chr8:131442808..131445703-chr8:131454691..131456819,2	MCF-7	breast:
3	chr8:131442195..131445335-chr8:131452635..131456457,4	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10098396	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10098622	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10103280	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11778323	0.87[EUR][1000 genomes]
rs11786359	0.88[EUR][1000 genomes]
rs16904259	0.82[EUR][1000 genomes]
rs35977498	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4733575	0.88[EUR][1000 genomes]
rs72724494	0.83[EUR][1000 genomes]
rs73713907	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816836	0.87[AMR][1000 genomes];0.86[EUR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
3	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
4	chr8:131429400-131447200	Weak transcription	Gastric	stomach
5	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
8	chr8:131432200-131449400	Weak transcription	Ovary	ovary
9	chr8:131434600-131447000	Weak transcription	HSMM	muscle
10	chr8:131434600-131447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:131435000-131446600	Weak transcription	NH-A	brain
13	chr8:131437000-131449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:131437000-131449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:131438800-131451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:131439200-131449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:131439200-131450200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:131439400-131447400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:131439400-131450000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:131439600-131447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:131440800-131445800	Weak transcription	HepG2	liver
23	chr8:131441000-131446800	Weak transcription	Pancreas	Pancrea
24	chr8:131441000-131449600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:131441000-131449800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:131441000-131450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131441200-131453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:131442000-131446800	Weak transcription	Osteobl	bone
29	chr8:131442000-131450600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:131442200-131447600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:131442400-131449800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:131442800-131446200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:131443000-131445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:131443000-131446800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:131443200-131445400	Weak transcription	Brain Substantia Nigra	brain
36	chr8:131443200-131451400	Strong transcription	NHEK	skin
37	chr8:131443400-131445400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:131443400-131445600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:131443400-131447000	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:131443400-131447000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:131443400-131447200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:131443400-131451400	Weak transcription	Fetal Kidney	kidney
43	chr8:131443600-131444800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:131443600-131444800	Weak transcription	Placenta	Placenta
45	chr8:131443600-131444800	Weak transcription	Fetal Stomach	stomach
46	chr8:131443600-131445000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:131443600-131445600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:131443600-131446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:131443600-131446800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:131443600-131446800	Weak transcription	Hela-S3	cervix

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