Variant report

Variant	rs1824788
Chromosome Location	chr5:58440258-58440259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1105577	0.86[JPT][hapmap]
rs12658004	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13361218	0.83[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs16889280	0.86[JPT][hapmap]
rs1971940	0.83[CHD][hapmap]
rs28385324	0.83[CHD][hapmap]
rs72764072	0.82[ASN][1000 genomes]
rs7728050	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs922434	0.83[CHB][hapmap];0.82[JPT][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1824788	MIER3	cis	cerebellum	SCAN

Chromatin state (count:25 , 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	chr5:58439400-58440600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:58439600-58440400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:58439600-58441600	Flanking Active TSS	A549	lung
16	chr5:58440000-58441200	Enhancers	Fetal Heart	heart
17	chr5:58440000-58447000	Weak transcription	Stomach Mucosa	stomach
18	chr5:58440200-58440400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr5:58440200-58440600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:58440200-58440600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:58440200-58442600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:58440200-58442600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:58440200-58442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:58440200-58444600	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:58440200-58448600	Weak transcription	Brain Anterior Caudate	brain

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