Variant report

Variant	rs12522647
Chromosome Location	chr5:60739052-60739053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10041978	1.00[ASN][1000 genomes]
rs1045352	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10939900	0.86[ASN][1000 genomes]
rs10939901	0.86[ASN][1000 genomes]
rs10939902	0.87[ASN][1000 genomes]
rs10939903	1.00[ASN][1000 genomes]
rs10939905	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11742658	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743711	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11747564	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749200	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11750589	0.85[ASN][1000 genomes]
rs11950318	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11952146	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11954430	0.94[ASN][1000 genomes]
rs12187112	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12188627	0.82[ASN][1000 genomes]
rs12188685	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12188710	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12189001	0.86[ASN][1000 genomes]
rs12518479	0.86[ASN][1000 genomes]
rs12520628	0.86[ASN][1000 genomes]
rs13156100	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13157657	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13157831	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13158413	0.89[ASN][1000 genomes]
rs13158675	0.86[ASN][1000 genomes]
rs13159018	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13159166	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13160801	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13162358	0.86[ASN][1000 genomes]
rs13162694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13163970	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13166934	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13169711	0.86[ASN][1000 genomes]
rs13170135	0.84[ASN][1000 genomes]
rs13170262	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171497	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13171757	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13172080	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13172084	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13178686	0.86[ASN][1000 genomes]
rs13179091	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13179617	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13181015	0.85[ASN][1000 genomes]
rs13185068	0.92[ASN][1000 genomes]
rs13185783	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186194	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13188685	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1348716	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1363892	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1374043	0.94[ASN][1000 genomes]
rs1445976	0.92[ASN][1000 genomes]
rs1445979	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445980	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1445981	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477355	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17424296	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1986252	0.94[ASN][1000 genomes]
rs2034239	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053693	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053694	0.92[ASN][1000 genomes]
rs2276987	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28610339	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34739794	0.84[ASN][1000 genomes]
rs35262187	0.86[ASN][1000 genomes]
rs4276369	0.82[ASN][1000 genomes]
rs4392578	0.86[ASN][1000 genomes]
rs4484384	0.86[ASN][1000 genomes]
rs4604142	0.86[ASN][1000 genomes]
rs55838118	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56035042	0.86[ASN][1000 genomes]
rs60529601	0.86[ASN][1000 genomes]
rs60886975	0.86[ASN][1000 genomes]
rs62368660	0.86[ASN][1000 genomes]
rs6449528	0.86[ASN][1000 genomes]
rs6449529	0.86[ASN][1000 genomes]
rs6449530	0.85[ASN][1000 genomes]
rs6449531	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6449532	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6449533	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6449535	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66775554	0.92[ASN][1000 genomes]
rs6860608	0.85[ASN][1000 genomes]
rs6865624	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6873712	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6874264	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6874266	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6877610	0.86[ASN][1000 genomes]
rs6878927	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6879809	0.92[ASN][1000 genomes]
rs6881765	0.86[ASN][1000 genomes]
rs6881799	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6882136	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6885005	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6890351	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6894675	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6895046	0.94[ASN][1000 genomes]
rs6898746	0.91[ASN][1000 genomes]
rs7443602	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7700289	0.86[ASN][1000 genomes]
rs7701440	0.82[ASN][1000 genomes]
rs7709645	0.87[ASN][1000 genomes]
rs7714457	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7714712	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7717082	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7719647	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7722810	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7724551	0.84[ASN][1000 genomes]
rs7727824	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7732234	0.90[ASN][1000 genomes]
rs7734879	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[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	esv2753894	chr5:60731458-60777345	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60719800-60745200	Weak transcription	NHDF-Ad	bronchial
2	chr5:60720600-60743200	Weak transcription	HSMMtube	muscle
3	chr5:60726800-60745600	Weak transcription	Stomach Mucosa	stomach
4	chr5:60728400-60745400	Weak transcription	Ovary	ovary
5	chr5:60732600-60743000	Weak transcription	Aorta	Aorta
6	chr5:60733000-60745600	Weak transcription	Psoas Muscle	Psoas
7	chr5:60733400-60745200	Weak transcription	Pancreas	Pancrea
8	chr5:60733400-60745400	Weak transcription	Esophagus	oesophagus
9	chr5:60733400-60746800	Weak transcription	Left Ventricle	heart
10	chr5:60734600-60745200	Weak transcription	Osteobl	bone
11	chr5:60734800-60740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:60735200-60745400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:60736400-60739600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:60736400-60739600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr5:60736600-60739600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:60737400-60739200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:60737400-60739200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr5:60737400-60739600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:60737400-60739600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:60737600-60739600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:60737600-60745200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:60737800-60740600	Weak transcription	A549	lung
23	chr5:60737800-60744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:60737800-60745400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:60737800-60745600	Weak transcription	Fetal Stomach	stomach
26	chr5:60737800-60757000	Weak transcription	Gastric	stomach
27	chr5:60738400-60739400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr5:60738400-60739600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr5:60738400-60740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:60738600-60743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:60738800-60739200	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr5:60738800-60739200	ZNF genes & repeats	Fetal Lung	lung
33	chr5:60738800-60739600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr5:60739000-60739600	Strong transcription	HSMM	muscle
35	chr5:60739000-60740800	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:60739000-60741200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:60739000-60742800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:60739000-60745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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