Variant report

Variant	rs72726221
Chromosome Location	chr8:131441851-131441852
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	GATA3	chr8:131441658-131442319	T-47D	breast:	n/a	n/a
2	POLR2A	chr8:131441765-131442236	A549	lung:	n/a	n/a
3	GATA3	chr8:131441711-131442411	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131441459..131443636-chr8:131445223..131447112,2	K562	blood:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11780644	0.87[EUR][1000 genomes]
rs11784953	0.86[EUR][1000 genomes]
rs6470821	0.82[EUR][1000 genomes]
rs72724491	0.86[EUR][1000 genomes]
rs72724496	0.86[EUR][1000 genomes]
rs72724497	0.86[EUR][1000 genomes]
rs72726214	0.82[EUR][1000 genomes]
rs72726218	0.81[EUR][1000 genomes]
rs72726219	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72726230	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816470	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7817038	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3321933	chr8:131438670-131443068	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3324025	chr8:131439370-131443168	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 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	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:131429400-131447200	Weak transcription	Gastric	stomach
6	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:131431600-131442600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
10	chr8:131432200-131449400	Weak transcription	Ovary	ovary
11	chr8:131432400-131442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:131434000-131443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:131434200-131443000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:131434600-131447000	Weak transcription	HSMM	muscle
15	chr8:131434600-131447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:131434800-131442000	Weak transcription	Fetal Stomach	stomach
17	chr8:131434800-131442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:131435000-131446600	Weak transcription	NH-A	brain
20	chr8:131435200-131442000	Weak transcription	HUVEC	blood vessel
21	chr8:131435200-131442200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:131435200-131442200	Weak transcription	Left Ventricle	heart
23	chr8:131435200-131443400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:131435800-131443200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:131437000-131442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:131437000-131449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:131437000-131449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:131437800-131443400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:131438200-131443600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:131438400-131442000	Weak transcription	Right Atrium	heart
32	chr8:131438800-131442200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:131438800-131451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:131439200-131443000	Weak transcription	Placenta	Placenta
35	chr8:131439200-131443200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:131439200-131449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:131439200-131450200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:131439400-131447400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:131439400-131450000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:131439600-131447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:131439800-131442800	Strong transcription	NHLF	lung
42	chr8:131440200-131442200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:131440400-131442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:131440800-131442800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:131440800-131443200	Strong transcription	A549	lung
46	chr8:131440800-131443600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:131440800-131444000	Enhancers	Right Ventricle	heart
48	chr8:131440800-131445800	Weak transcription	HepG2	liver
49	chr8:131441000-131442400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:131441000-131442600	Weak transcription	Lung	lung

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