Variant report

Variant	rs72726217
Chromosome Location	chr8:131435145-131435146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11776262	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11777909	0.93[AMR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11784988	0.82[AMR][1000 genomes];0.86[EUR][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];0.83[EUR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57315235	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.93[AMR][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]
rs72722393	0.93[AMR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722397	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];0.83[EUR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72724490	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726220	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.93[AMR][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];0.83[EUR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.93[AMR][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	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
2	chr8:131428200-131435200	Enhancers	Left Ventricle	heart
3	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
5	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
6	chr8:131429400-131436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:131429400-131440200	Weak transcription	Pancreas	Pancrea
8	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:131429400-131447200	Weak transcription	Gastric	stomach
10	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:131429600-131438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:131431000-131435200	Enhancers	Right Atrium	heart
14	chr8:131431600-131442600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:131432000-131436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:131432000-131438800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
18	chr8:131432200-131436600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:131432200-131439800	Weak transcription	NHDF-Ad	bronchial
20	chr8:131432200-131449400	Weak transcription	Ovary	ovary
21	chr8:131432400-131436400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:131432400-131438200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:131432400-131441600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:131432400-131441600	Weak transcription	Osteobl	bone
25	chr8:131432400-131442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:131432800-131435800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:131433200-131435600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:131433200-131437000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:131433400-131435200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:131433400-131435800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:131433400-131436800	Genic enhancers	NHEK	skin
32	chr8:131433600-131435200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131433600-131437400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr8:131433800-131435200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:131433800-131435600	ZNF genes & repeats	A549	lung
36	chr8:131433800-131438000	Weak transcription	Spleen	Spleen
37	chr8:131433800-131440800	Weak transcription	Right Ventricle	heart
38	chr8:131434000-131435200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:131434000-131435200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:131434000-131435200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:131434000-131443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:131434200-131435200	Enhancers	Adipose Nuclei	Adipose
43	chr8:131434200-131435200	Genic enhancers	HUVEC	blood vessel
44	chr8:131434200-131435600	Strong transcription	NHLF	lung
45	chr8:131434200-131443000	Weak transcription	Brain Substantia Nigra	brain
46	chr8:131434400-131436400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:131434600-131435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:131434600-131435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:131434600-131435800	Enhancers	HMEC	breast
50	chr8:131434600-131436400	Weak transcription	H1 Cell Line	embryonic stem cell

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