Variant report

Variant	rs7443333
Chromosome Location	chr5:58621174-58621175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10940644	0.84[EUR][1000 genomes]
rs11959132	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs12517657	1.00[ASN][1000 genomes]
rs17443709	0.84[CEU][hapmap];1.00[ASN][1000 genomes]
rs17727092	1.00[ASN][1000 genomes]
rs2028836	0.93[GIH][hapmap]
rs4700328	0.93[GIH][hapmap]
rs6877508	0.93[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7443333	MIER3	cis	cerebellum	SCAN
rs7443333	RAB3C	cis	parietal	SCAN
rs7443333	PLK2	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58612800-58627200	Weak transcription	Aorta	Aorta
2	chr5:58613600-58626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58613600-58628600	Weak transcription	Gastric	stomach
4	chr5:58613800-58622600	Weak transcription	Fetal Brain Female	brain
5	chr5:58614000-58624600	Weak transcription	Fetal Stomach	stomach
6	chr5:58616200-58623000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:58616200-58624600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:58616800-58621600	Enhancers	Fetal Heart	heart
9	chr5:58617200-58622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58617600-58624600	Weak transcription	Left Ventricle	heart
11	chr5:58618600-58624600	Weak transcription	Right Atrium	heart
12	chr5:58618800-58623200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:58618800-58624400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:58618800-58629000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:58619200-58623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:58619200-58624000	Weak transcription	Fetal Kidney	kidney
17	chr5:58619200-58624200	Weak transcription	Hela-S3	cervix
18	chr5:58619200-58624400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:58619400-58622200	Weak transcription	Fetal Brain Male	brain
20	chr5:58619400-58625400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:58620000-58621600	Genic enhancers	A549	lung
22	chr5:58620200-58623000	Weak transcription	Psoas Muscle	Psoas
23	chr5:58620400-58622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:58620600-58621400	Enhancers	HepG2	liver
25	chr5:58620600-58622200	Weak transcription	Fetal Lung	lung
26	chr5:58620800-58622800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:58620800-58623200	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:58621000-58621200	Enhancers	Fetal Intestine Small	intestine
29	chr5:58621000-58621400	Enhancers	Placenta Amnion	Placenta Amnion

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