Variant report

Variant	rs56013326
Chromosome Location	chr8:120428758-120428759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10505355	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505356	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505357	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505359	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505361	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505362	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10575	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057732	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11526	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11775043	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775209	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778277	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778491	0.82[EUR][1000 genomes]
rs11779998	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780200	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780243	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781723	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782103	0.82[EUR][1000 genomes]
rs11782222	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782840	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783464	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784242	0.82[EUR][1000 genomes]
rs11785549	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786524	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786573	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786577	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381333	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381334	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381335	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14324	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461690	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461693	0.82[EUR][1000 genomes]
rs1461696	0.82[EUR][1000 genomes]
rs1551784	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551785	1.00[ASN][1000 genomes]
rs1599476	1.00[ASN][1000 genomes]
rs16892511	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892552	0.85[EUR][1000 genomes]
rs17187482	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187503	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187655	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188194	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188373	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189020	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791184	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791208	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17791334	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792124	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792171	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17793097	1.00[ASN][1000 genomes]
rs2071519	0.85[EUR][1000 genomes]
rs2447153	1.00[ASN][1000 genomes]
rs2447155	1.00[ASN][1000 genomes]
rs2447157	1.00[ASN][1000 genomes]
rs2447158	1.00[ASN][1000 genomes]
rs2447159	1.00[ASN][1000 genomes]
rs2447160	1.00[ASN][1000 genomes]
rs2447163	1.00[ASN][1000 genomes]
rs2447164	1.00[ASN][1000 genomes]
rs2447165	1.00[ASN][1000 genomes]
rs2447167	1.00[ASN][1000 genomes]
rs2447168	1.00[ASN][1000 genomes]
rs2447169	1.00[ASN][1000 genomes]
rs2447170	1.00[ASN][1000 genomes]
rs2447171	1.00[ASN][1000 genomes]
rs2447172	1.00[ASN][1000 genomes]
rs2447173	1.00[ASN][1000 genomes]
rs2447174	1.00[ASN][1000 genomes]
rs2447176	1.00[ASN][1000 genomes]
rs2447177	1.00[ASN][1000 genomes]
rs2447178	1.00[ASN][1000 genomes]
rs2447179	1.00[ASN][1000 genomes]
rs2447180	1.00[ASN][1000 genomes]
rs2447181	1.00[ASN][1000 genomes]
rs2447182	1.00[ASN][1000 genomes]
rs2447183	1.00[ASN][1000 genomes]
rs2469996	1.00[ASN][1000 genomes]
rs2469997	1.00[ASN][1000 genomes]
rs2469998	1.00[ASN][1000 genomes]
rs2469999	1.00[ASN][1000 genomes]
rs2470001	1.00[ASN][1000 genomes]
rs2470002	1.00[ASN][1000 genomes]
rs2470003	1.00[ASN][1000 genomes]
rs2470004	1.00[ASN][1000 genomes]
rs2470005	1.00[ASN][1000 genomes]
rs2470006	1.00[ASN][1000 genomes]
rs2470007	1.00[ASN][1000 genomes]
rs2470010	1.00[ASN][1000 genomes]
rs2470011	1.00[ASN][1000 genomes]
rs2470012	1.00[ASN][1000 genomes]
rs2470013	1.00[ASN][1000 genomes]
rs2470014	1.00[ASN][1000 genomes]
rs2470015	1.00[ASN][1000 genomes]
rs2470016	1.00[ASN][1000 genomes]
rs2470017	1.00[ASN][1000 genomes]
rs2470018	1.00[ASN][1000 genomes]
rs2470021	1.00[ASN][1000 genomes]
rs2470023	1.00[ASN][1000 genomes]
rs2470024	1.00[ASN][1000 genomes]
rs2470025	1.00[ASN][1000 genomes]
rs2470026	1.00[ASN][1000 genomes]
rs2470028	1.00[ASN][1000 genomes]
rs2470030	1.00[ASN][1000 genomes]
rs2470031	1.00[ASN][1000 genomes]
rs2470032	1.00[ASN][1000 genomes]
rs2470033	1.00[ASN][1000 genomes]
rs2470034	1.00[ASN][1000 genomes]
rs2470035	1.00[ASN][1000 genomes]
rs2470040	1.00[ASN][1000 genomes]
rs2957356	1.00[ASN][1000 genomes]
rs2957357	1.00[ASN][1000 genomes]
rs3110337	1.00[ASN][1000 genomes]
rs34112166	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928531	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4123837	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019665	1.00[ASN][1000 genomes]
rs55883962	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56736221	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56774448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56782665	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56860849	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57333327	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57534632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57788046	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210708	0.85[EUR][1000 genomes]
rs58486051	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58576806	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58619390	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58659618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58936256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59780141	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60859300	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60978064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61064779	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61100635	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996275	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012790	0.82[EUR][1000 genomes]
rs7017173	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722783	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7341594	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709779	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711267	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713572	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713574	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73713589	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746642	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815177	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815390	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816205	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816347	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828460	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832471	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834596	0.90[EUR][1000 genomes];1.00[ASN][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120428000-120428800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr8:120428000-120428800	Flanking Active TSS	Fetal Muscle Leg	muscle
3	chr8:120428000-120429000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:120428000-120429000	Flanking Active TSS	Fetal Brain Female	brain
5	chr8:120428000-120429200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:120428000-120429400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:120428000-120429400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:120428000-120429400	Active TSS	Brain Anterior Caudate	brain
9	chr8:120428000-120429400	Active TSS	Brain Germinal Matrix	brain
10	chr8:120428000-120429600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:120428000-120429600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:120428000-120429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:120428000-120429600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr8:120428000-120429600	Active TSS	Brain Angular Gyrus	brain
15	chr8:120428000-120429800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:120428000-120429800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:120428000-120430200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:120428000-120431200	Active TSS	Aorta	Aorta
19	chr8:120428200-120428800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:120428200-120428800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr8:120428200-120428800	Bivalent Enhancer	Placenta	Placenta
22	chr8:120428200-120428800	Active TSS	Gastric	stomach
23	chr8:120428200-120428800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr8:120428200-120428800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:120428200-120429000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:120428200-120429000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr8:120428200-120429000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:120428200-120429000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:120428200-120429000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:120428200-120429200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:120428200-120429200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:120428200-120429200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:120428200-120429200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr8:120428200-120429200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:120428200-120429200	Flanking Active TSS	Liver	Liver
36	chr8:120428200-120429200	Flanking Active TSS	Lung	lung
37	chr8:120428200-120429200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:120428200-120429400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:120428200-120429400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:120428200-120429400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:120428200-120429400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr8:120428200-120429400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:120428200-120429400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:120428200-120429400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr8:120428200-120429400	Flanking Active TSS	Pancreas	Pancrea
46	chr8:120428200-120429400	Active TSS	Psoas Muscle	Psoas
47	chr8:120428200-120429400	Active TSS	Rectal Smooth Muscle	rectum
48	chr8:120428200-120429400	Flanking Active TSS	Right Ventricle	heart
49	chr8:120428200-120429400	Active TSS	A549	lung
50	chr8:120428200-120429400	Flanking Active TSS	HMEC	breast

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