Variant report

Variant	rs1423545
Chromosome Location	chr5:52037195-52037196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10053445	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058614	0.87[AFR][1000 genomes]
rs10069753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076048	1.00[AMR][1000 genomes]
rs12332356	1.00[AMR][1000 genomes]
rs12332531	1.00[AMR][1000 genomes]
rs13436916	1.00[AMR][1000 genomes]
rs28445978	1.00[AMR][1000 genomes]
rs6875697	1.00[AMR][1000 genomes]
rs6881021	0.87[AFR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52029600-52039200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:52033200-52039400	Enhancers	Primary T cells from cord blood	blood
3	chr5:52034400-52037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:52034400-52037400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:52034400-52037400	Weak transcription	Fetal Thymus	thymus
6	chr5:52034400-52037400	Weak transcription	Spleen	Spleen
7	chr5:52034400-52038400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:52034400-52039200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:52034400-52040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:52034600-52037200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:52034600-52037400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:52034600-52037600	Weak transcription	HUVEC	blood vessel
13	chr5:52034600-52037800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:52034600-52038200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:52035000-52037600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:52035000-52038200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:52035200-52038200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:52035600-52037400	Weak transcription	Dnd41	blood
19	chr5:52035800-52037800	Weak transcription	Fetal Lung	lung
20	chr5:52036600-52037200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:52036600-52037200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:52036600-52037400	Weak transcription	Small Intestine	intestine
23	chr5:52036600-52039200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:52036600-52040000	Weak transcription	Fetal Stomach	stomach
25	chr5:52036800-52039000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:52037000-52041600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:52037000-52042000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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