Variant report

Variant	rs1423561
Chromosome Location	chr5:52723007-52723008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10805447	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10805448	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10940313	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10940315	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10940316	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11738755	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11740067	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11741680	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11742633	0.83[ASN][1000 genomes]
rs11743473	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11744360	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11745102	0.83[ASN][1000 genomes]
rs11745979	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11746341	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746509	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11746732	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11747948	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11748130	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11748797	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11748901	0.83[ASN][1000 genomes]
rs11955043	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12153379	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153556	0.82[ASN][1000 genomes]
rs12153680	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13153643	0.83[ASN][1000 genomes]
rs13156108	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13162095	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13163048	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13167150	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13169091	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13169122	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13170709	0.84[ASN][1000 genomes]
rs13171352	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13171813	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13174728	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13175176	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13175475	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13176442	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13178720	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13183277	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13188654	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13188772	0.83[ASN][1000 genomes]
rs13189230	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1363971	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423549	0.85[ASN][1000 genomes]
rs1423559	0.85[ASN][1000 genomes]
rs1469100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34256928	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34437756	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34444043	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34483113	0.83[ASN][1000 genomes]
rs34547502	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34737247	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34744728	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34750307	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34762534	0.82[ASN][1000 genomes]
rs34801686	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34924451	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34942708	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34985749	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35152485	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35201567	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35237162	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35257227	0.83[ASN][1000 genomes]
rs35314846	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35573280	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35581888	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35586638	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35636180	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35930552	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3943929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131065	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4254863	0.83[ASN][1000 genomes]
rs4254864	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4274942	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4279297	0.83[ASN][1000 genomes]
rs4301187	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4326101	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4421065	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4499786	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4535418	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4549480	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4568325	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55793310	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55880944	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56285131	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62357814	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62357815	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62357825	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62357827	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62357829	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62357837	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62357857	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62357858	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62357859	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62359260	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62359263	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71592629	0.83[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52715400-52723400	Enhancers	Hela-S3	cervix
2	chr5:52720000-52725400	Weak transcription	NH-A	brain
3	chr5:52720800-52723400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:52721200-52725800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:52721400-52723400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:52721400-52725400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:52721400-52725600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:52721600-52723200	Enhancers	HepG2	liver
9	chr5:52721600-52725400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:52721600-52725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:52721600-52725400	Weak transcription	HSMM	muscle
12	chr5:52721600-52730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:52721800-52725200	Weak transcription	NHLF	lung
14	chr5:52721800-52725600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:52722000-52723200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:52722000-52724200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:52722000-52724600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:52722000-52725400	Weak transcription	NHEK	skin
19	chr5:52722200-52725600	Weak transcription	HMEC	breast
20	chr5:52722200-52726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:52722400-52724200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:52722400-52725600	Weak transcription	K562	blood
23	chr5:52722400-52725800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:52722800-52723600	Enhancers	NHDF-Ad	bronchial
25	chr5:52722800-52725000	Weak transcription	Osteobl	bone
26	chr5:52723000-52725400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:52723000-52725400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:52723000-52725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:52723000-52725600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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