Variant report

Variant	rs72752567
Chromosome Location	chr5:52034036-52034037
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10512989	0.97[ASN][1000 genomes]
rs16880141	0.97[ASN][1000 genomes]
rs16880156	0.95[ASN][1000 genomes]
rs16880165	0.97[ASN][1000 genomes]
rs1820165	0.97[ASN][1000 genomes]
rs55673164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55977259	0.97[ASN][1000 genomes]
rs56926375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60357834	0.91[ASN][1000 genomes]
rs72750760	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72752532	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72752550	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752560	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752561	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752562	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752570	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs72752572	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs72752574	0.97[ASN][1000 genomes]
rs72752575	0.97[ASN][1000 genomes]
rs72752576	0.97[ASN][1000 genomes]
rs72752577	0.97[ASN][1000 genomes]
rs72754533	0.97[ASN][1000 genomes]
rs72754535	0.97[ASN][1000 genomes]
rs72754540	0.97[ASN][1000 genomes]
rs72754543	0.97[ASN][1000 genomes]
rs72754544	0.97[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52027000-52036200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:52029600-52039200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:52033000-52034400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:52033000-52034800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:52033000-52035200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:52033200-52035600	Enhancers	Dnd41	blood
7	chr5:52033200-52039400	Enhancers	Primary T cells from cord blood	blood
8	chr5:52033600-52035000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:52033600-52035000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:52033800-52034200	Enhancers	Fetal Lung	lung
11	chr5:52033800-52034200	Enhancers	Small Intestine	intestine
12	chr5:52033800-52034400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:52033800-52034400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:52033800-52034400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:52033800-52034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:52033800-52034400	Enhancers	Fetal Thymus	thymus
17	chr5:52033800-52034400	Enhancers	Ovary	ovary
18	chr5:52033800-52034400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:52033800-52034400	Enhancers	Thymus	Thymus
20	chr5:52033800-52034600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:52033800-52034600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:52033800-52034600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:52033800-52034600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:52033800-52034800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr5:52033800-52035000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:52034000-52034400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:52034000-52034400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:52034000-52034400	Enhancers	Spleen	Spleen
29	chr5:52034000-52034600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:52034000-52034600	Enhancers	HUVEC	blood vessel

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