Variant report

Variant	rs72722380
Chromosome Location	chr8:131219310-131219311
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131213858..131216105-chr8:131217868..131219990,3	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs11774067	1.00[AFR][1000 genomes]
rs11774131	1.00[AFR][1000 genomes]
rs11774346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11774834	1.00[AFR][1000 genomes]
rs11774917	1.00[AFR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11775966	1.00[AFR][1000 genomes]
rs11776262	0.88[AMR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes]
rs11777289	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11777909	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778252	1.00[AFR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes]
rs11778460	1.00[AFR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11779191	1.00[AFR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11781272	1.00[AFR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11784988	0.88[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11785806	0.88[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes]
rs11787505	1.00[AFR][1000 genomes]
rs4319146	1.00[AFR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes]
rs57315235	0.88[AMR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720387	1.00[AFR][1000 genomes]
rs72720390	1.00[AFR][1000 genomes]
rs72722303	1.00[AFR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722363	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722393	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72724412	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724490	0.88[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs752716	1.00[AFR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
2	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
3	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
5	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
7	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
8	chr8:131209000-131224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
10	chr8:131210000-131219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:131210000-131250400	Weak transcription	Gastric	stomach
12	chr8:131210200-131225000	Weak transcription	Fetal Stomach	stomach
13	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:131211400-131219600	Weak transcription	Brain Anterior Caudate	brain
15	chr8:131211400-131225600	Weak transcription	Fetal Heart	heart
16	chr8:131211600-131219600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:131211800-131219800	Weak transcription	HSMMtube	muscle
18	chr8:131211800-131224200	Weak transcription	Left Ventricle	heart
19	chr8:131212000-131222800	Weak transcription	Right Ventricle	heart
20	chr8:131213600-131219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:131213600-131224600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:131213600-131231600	Weak transcription	Right Atrium	heart
23	chr8:131213800-131226000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
25	chr8:131214200-131224600	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:131214600-131225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:131214600-131238200	Weak transcription	Ovary	ovary
30	chr8:131215600-131219800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:131215800-131220000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:131215800-131224800	Weak transcription	Lung	lung
33	chr8:131215800-131231600	Weak transcription	Spleen	Spleen
34	chr8:131216800-131221600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:131216800-131224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:131217000-131219600	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:131217000-131220600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:131217000-131221600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:131217000-131224600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:131217000-131225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:131217200-131221200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:131217200-131221600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:131217200-131224600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:131217200-131237000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:131217400-131221000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:131217400-131225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:131217400-131235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:131217600-131232000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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