Variant report

Variant	rs12548741
Chromosome Location	chr8:91628878-91628879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10086401	0.87[ASN][1000 genomes]
rs10086462	0.81[ASN][1000 genomes]
rs10091275	0.87[ASN][1000 genomes]
rs10103198	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10112242	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10283086	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808619	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808620	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956720	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956730	0.90[ASN][1000 genomes]
rs10956736	0.91[ASN][1000 genomes]
rs10956748	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956750	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776824	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779312	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11784529	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545279	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545351	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545726	0.84[EUR][1000 genomes]
rs12547016	0.87[ASN][1000 genomes]
rs12548806	0.87[ASN][1000 genomes]
rs12680211	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254212	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255452	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13262354	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267237	0.80[ASN][1000 genomes]
rs13267989	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13268594	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13279222	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13279263	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1476427	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1476428	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16905041	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1858673	0.87[ASN][1000 genomes]
rs1858674	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023624	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023626	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073640	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105965	0.85[EUR][1000 genomes]
rs2105967	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105968	0.90[ASN][1000 genomes]
rs2157607	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2187981	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2187982	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2213886	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2285231	0.86[EUR][1000 genomes]
rs2285232	0.87[ASN][1000 genomes]
rs2285233	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34126139	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35159732	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35409073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36046037	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140679	0.90[ASN][1000 genomes]
rs4140680	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324886	0.80[EUR][1000 genomes]
rs4495386	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4495387	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734250	0.90[ASN][1000 genomes]
rs4734266	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734268	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734269	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735210	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735230	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735236	0.83[ASN][1000 genomes]
rs4735256	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735260	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5005585	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62526886	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986001	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6986088	0.85[EUR][1000 genomes]
rs6986359	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988733	0.85[EUR][1000 genomes]
rs6989123	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6998150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6999898	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004287	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7006279	0.93[ASN][1000 genomes]
rs7007102	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007129	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7008765	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013893	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7014073	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014967	0.87[ASN][1000 genomes]
rs7016220	0.90[ASN][1000 genomes]
rs715057	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7463641	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs756568	0.87[ASN][1000 genomes]
rs756569	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812970	0.85[EUR][1000 genomes]
rs7817954	0.85[EUR][1000 genomes]
rs7819519	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7823461	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7826178	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837109	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837230	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840846	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297871	0.87[ASN][1000 genomes]
rs9643298	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643307	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643308	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694450	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91618200-91631600	Weak transcription	Stomach Mucosa	stomach
2	chr8:91620000-91630000	Weak transcription	HSMMtube	muscle
3	chr8:91620400-91630800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:91620400-91652200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:91622400-91634600	Weak transcription	NHEK	skin
6	chr8:91622800-91630800	Weak transcription	K562	blood
7	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
8	chr8:91624200-91652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:91624400-91644800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:91624600-91635000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:91627400-91630800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr8:91627600-91629800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:91627600-91633000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr8:91627600-91634000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr8:91627800-91632600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr8:91628000-91629400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr8:91628000-91629600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:91628000-91630800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:91628200-91630400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:91628200-91631800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr8:91628200-91650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:91628400-91629000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:91628400-91629200	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr8:91628400-91631200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr8:91628400-91634000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:91628600-91629000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:91628600-91629000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:91628600-91629000	Strong transcription	Aorta	Aorta
29	chr8:91628600-91629200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:91628600-91629200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:91628600-91629200	ZNF genes & repeats	Fetal Stomach	stomach
32	chr8:91628600-91629200	ZNF genes & repeats	Lung	lung
33	chr8:91628600-91629400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:91628600-91629400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:91628600-91629400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:91628600-91629400	ZNF genes & repeats	Fetal Lung	lung
37	chr8:91628600-91629600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr8:91628600-91629600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:91628600-91629600	ZNF genes & repeats	HSMM	muscle
40	chr8:91628600-91629800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:91628600-91629800	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr8:91628600-91629800	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr8:91628600-91630000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:91628600-91630200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr8:91628600-91630600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:91628600-91630600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:91628600-91633000	Weak transcription	Adipose Nuclei	Adipose
48	chr8:91628600-91652000	Weak transcription	HUVEC	blood vessel
49	chr8:91628800-91629200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr8:91628800-91629200	ZNF genes & repeats	Ovary	ovary

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