Variant report

Variant	rs72722318
Chromosome Location	chr8:131097157-131097158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131096532..131098102-chr8:131100049..131102503,2	K562	blood:
2	chr8:131062555..131064822-chr8:131096828..131099567,2	K562	blood:
3	chr8:131092705..131094983-chr8:131096553..131098588,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10106205	0.87[EUR][1000 genomes]
rs11774067	1.00[AFR][1000 genomes]
rs11774131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes]
rs11774834	1.00[AFR][1000 genomes]
rs11774917	1.00[AFR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes]
rs11775966	1.00[AFR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11777354	0.84[EUR][1000 genomes]
rs11778252	1.00[AFR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11778460	1.00[AFR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes]
rs11779191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11781272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11787505	1.00[AFR][1000 genomes]
rs28380096	0.98[EUR][1000 genomes]
rs28759724	0.87[EUR][1000 genomes]
rs4319146	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes]
rs7008180	0.97[EUR][1000 genomes]
rs72720387	1.00[AFR][1000 genomes]
rs72720390	1.00[AFR][1000 genomes]
rs72722303	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes]
rs752716	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes]
rs929990	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:131075600-131105000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
9	chr8:131076800-131097400	Weak transcription	Fetal Heart	heart
10	chr8:131077600-131097600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr8:131080400-131107000	Strong transcription	Placenta	Placenta
12	chr8:131081000-131098000	Weak transcription	Fetal Brain Male	brain
13	chr8:131082400-131105400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:131083400-131104800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:131083400-131104800	Strong transcription	Fetal Intestine Large	intestine
16	chr8:131083600-131105600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131084000-131107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:131084200-131104800	Strong transcription	Fetal Stomach	stomach
19	chr8:131084400-131104600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:131084400-131105600	Weak transcription	Stomach Mucosa	stomach
21	chr8:131087800-131098200	Weak transcription	Esophagus	oesophagus
22	chr8:131087800-131109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:131088200-131099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131088200-131101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:131088600-131098000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:131089400-131107200	Strong transcription	NHEK	skin
27	chr8:131089600-131098200	Weak transcription	Aorta	Aorta
28	chr8:131089800-131099800	Weak transcription	Pancreas	Pancrea
29	chr8:131090200-131101000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:131091000-131120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:131091200-131098200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:131091200-131102800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:131091800-131106800	Strong transcription	A549	lung
34	chr8:131092400-131098200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:131092400-131098200	Weak transcription	Gastric	stomach
36	chr8:131092400-131099800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:131092400-131100600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:131092400-131101200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:131092600-131099800	Weak transcription	Brain Angular Gyrus	brain
40	chr8:131092600-131102600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:131092800-131097200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:131092800-131097600	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:131092800-131098200	Weak transcription	Psoas Muscle	Psoas
44	chr8:131092800-131107200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:131093200-131105200	Strong transcription	HUVEC	blood vessel
46	chr8:131093200-131106000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:131094000-131102400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:131094000-131104200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:131094000-131105200	Strong transcription	Primary T cells from cord blood	blood
50	chr8:131094200-131097200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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