Variant report

Variant	rs72726223
Chromosome Location	chr8:131443061-131443062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:131442996-131443778	A549	lung:	n/a	n/a
2	POLR2A	chr8:131443032-131443212	HepG2	liver:	n/a	n/a
3	GABPA	chr8:131443021-131443458	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131441459..131443636-chr8:131445223..131447112,2	K562	blood:
2	chr8:131442973..131445344-chr8:131451202..131452908,2	MCF-7	breast:
3	chr8:131442808..131445703-chr8:131454691..131456819,2	MCF-7	breast:
4	chr8:131442195..131445335-chr8:131452635..131456457,4	MCF-7	breast:

No data

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

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11775398	0.81[EUR][1000 genomes]
rs11776262	0.82[AMR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777909	0.93[AMR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11784988	0.82[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785806	0.82[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57315235	0.82[AMR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724412	0.87[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724490	0.82[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726220	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726240	0.87[AMR][1000 genomes]
rs72726241	0.93[AMR][1000 genomes]
rs72726244	0.93[AMR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.93[AMR][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:80 , 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	chr8:131435200-131443400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:131435800-131443200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:131437000-131449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:131437000-131449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:131437800-131443400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:131438200-131443600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:131438800-131451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:131439200-131443200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:131439200-131449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:131439200-131450200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:131439400-131447400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:131439400-131450000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:131439600-131447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:131440800-131443200	Strong transcription	A549	lung
28	chr8:131440800-131443600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:131440800-131444000	Enhancers	Right Ventricle	heart
30	chr8:131440800-131445800	Weak transcription	HepG2	liver
31	chr8:131441000-131444000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:131441000-131444000	Enhancers	NHDF-Ad	bronchial
33	chr8:131441000-131446800	Weak transcription	Pancreas	Pancrea
34	chr8:131441000-131449600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:131441000-131449800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:131441000-131450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:131441200-131443600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:131441200-131453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:131441400-131443400	Strong transcription	Fetal Brain Female	brain
40	chr8:131441600-131443400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:131441600-131443600	Strong transcription	Hela-S3	cervix
42	chr8:131441600-131444200	Strong transcription	HMEC	breast
43	chr8:131441800-131443200	Genic enhancers	NHEK	skin
44	chr8:131441800-131443800	Enhancers	Adipose Nuclei	Adipose
45	chr8:131442000-131443400	Genic enhancers	HUVEC	blood vessel
46	chr8:131442000-131443800	Genic enhancers	Fetal Muscle Leg	muscle
47	chr8:131442000-131444200	Enhancers	Right Atrium	heart
48	chr8:131442000-131446800	Weak transcription	Osteobl	bone
49	chr8:131442000-131450600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:131442200-131443600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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