Variant report

Variant	rs28544243
Chromosome Location	chr5:58441162-58441163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10035950	1.00[ASN][1000 genomes]
rs10036199	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056754	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058671	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10058676	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10062176	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069146	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10079544	1.00[ASN][1000 genomes]
rs17722929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1960	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28539646	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35425879	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72764076	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72764077	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72764078	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7734053	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734070	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292192	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58424200-58446200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:58424200-58446600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:58429800-58447200	Weak transcription	Left Ventricle	heart
6	chr5:58430000-58442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:58433000-58451600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:58435400-58442400	Weak transcription	Hela-S3	cervix
9	chr5:58437400-58454000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:58437800-58444800	Weak transcription	Psoas Muscle	Psoas
11	chr5:58438000-58445200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
13	chr5:58439600-58441600	Flanking Active TSS	A549	lung
14	chr5:58440000-58441200	Enhancers	Fetal Heart	heart
15	chr5:58440000-58447000	Weak transcription	Stomach Mucosa	stomach
16	chr5:58440200-58442600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:58440200-58442600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:58440200-58442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:58440200-58444600	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:58440200-58448600	Weak transcription	Brain Anterior Caudate	brain
21	chr5:58440600-58444800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:58440600-58447000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:58441000-58441200	Enhancers	Primary T cells from cord blood	blood
24	chr5:58441000-58443800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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