Variant report

Variant	rs72751288
Chromosome Location	chr5:59127728-59127729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1008709	0.96[ASN][1000 genomes]
rs1027747	0.88[ASN][1000 genomes]
rs10940649	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1120533	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11951422	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11956684	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12523468	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13168347	0.88[ASN][1000 genomes]
rs13173398	0.98[ASN][1000 genomes]
rs17310599	0.93[ASN][1000 genomes]
rs17311853	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17311925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17371174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17830249	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067024	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2898247	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938780	0.93[ASN][1000 genomes]
rs2938783	0.89[ASN][1000 genomes]
rs2938786	0.96[ASN][1000 genomes]
rs2963817	0.98[ASN][1000 genomes]
rs2963818	0.96[ASN][1000 genomes]
rs2963821	0.96[ASN][1000 genomes]
rs2963822	0.89[ASN][1000 genomes]
rs2963825	0.92[ASN][1000 genomes]
rs2963826	0.93[ASN][1000 genomes]
rs3111173	0.98[ASN][1000 genomes]
rs34380238	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700342	0.88[ASN][1000 genomes]
rs56312915	0.93[ASN][1000 genomes]
rs60204066	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6885294	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72751266	0.93[ASN][1000 genomes]
rs72751270	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72751273	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72751280	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72751283	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72751285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72751293	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72751296	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72751298	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7703963	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7718249	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7730821	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs986400	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers 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	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59110400-59139000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:59124400-59127800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:59124400-59129200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:59124800-59128800	Weak transcription	Fetal Stomach	stomach
5	chr5:59124800-59128800	Weak transcription	HSMMtube	muscle
6	chr5:59126000-59128800	Weak transcription	NH-A	brain
7	chr5:59126200-59129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:59126800-59129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:59127000-59128000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:59127000-59128000	Flanking Active TSS	Hela-S3	cervix
11	chr5:59127000-59129600	Enhancers	HSMM	muscle
12	chr5:59127200-59127800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:59127200-59127800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:59127200-59127800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:59127200-59127800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:59127200-59128200	Enhancers	Aorta	Aorta
17	chr5:59127200-59128800	Enhancers	Fetal Kidney	kidney
18	chr5:59127200-59129200	Enhancers	Fetal Lung	lung
19	chr5:59127400-59127800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:59127400-59127800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:59127400-59127800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr5:59127400-59128000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:59127400-59128000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:59127600-59128800	Weak transcription	Fetal Brain Male	brain

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