Variant report

Variant	rs164652
Chromosome Location	chr5:52040546-52040547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10805442	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11957366	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187612	0.87[ASN][1000 genomes]
rs1645392	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164649	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164650	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164655	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs244493	0.81[EUR][1000 genomes]
rs244495	0.81[EUR][1000 genomes]
rs29976	0.80[EUR][1000 genomes]
rs29980	0.81[EUR][1000 genomes]
rs350444	0.86[ASN][1000 genomes]
rs351900	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351903	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351922	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351924	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351925	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352363	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352364	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352365	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865535	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027410	chr5:52022713-52103360	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52037000-52041600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr5:52037000-52042000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:52037200-52041600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:52037200-52041600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:52037200-52042000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:52037400-52041000	Enhancers	Dnd41	blood
7	chr5:52037400-52042200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr5:52037600-52041000	Enhancers	HUVEC	blood vessel
9	chr5:52037600-52041200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:52037600-52042600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:52037800-52042200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:52038000-52041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:52038200-52042000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:52038200-52042200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:52038400-52042000	Weak transcription	Hela-S3	cervix
16	chr5:52039000-52041600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr5:52039200-52040800	Enhancers	Adipose Nuclei	Adipose
18	chr5:52039200-52040800	Enhancers	Left Ventricle	heart
19	chr5:52039200-52041000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:52039200-52041000	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:52039200-52041400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:52039600-52040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:52039800-52040800	Weak transcription	Fetal Thymus	thymus
24	chr5:52039800-52040800	Weak transcription	Stomach Mucosa	stomach
25	chr5:52040000-52040600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:52040000-52042000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:52040200-52040600	Weak transcription	Fetal Stomach	stomach
28	chr5:52040200-52040800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:52040200-52042000	Weak transcription	Fetal Lung	lung
30	chr5:52040200-52042400	Weak transcription	Osteobl	bone
31	chr5:52040200-52043000	Enhancers	Primary T cells from cord blood	blood
32	chr5:52040400-52041400	Weak transcription	NHDF-Ad	bronchial
33	chr5:52040400-52041800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:52040400-52042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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