Variant report

Variant	rs4528649
Chromosome Location	chr18:45578780-45578781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4072891	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4359513	0.82[CHB][hapmap]
rs4468699	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4620750	0.95[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap]
rs4939701	0.82[CHB][hapmap]
rs4940202	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs4940217	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67466227	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67927311	0.81[EUR][1000 genomes]
rs7226941	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7239672	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7243697	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244127	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245101	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8093883	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs8099419	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs9945580	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9951809	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9958955	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9960301	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9960608	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4528649	SMAD2	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45573800-45578800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr18:45573800-45579000	Weak transcription	Fetal Kidney	kidney
3	chr18:45573800-45596400	Weak transcription	Aorta	Aorta
4	chr18:45574200-45581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr18:45576800-45580600	Weak transcription	Left Ventricle	heart
6	chr18:45577000-45601800	Weak transcription	Gastric	stomach
7	chr18:45577200-45579000	Weak transcription	Fetal Muscle Leg	muscle
8	chr18:45577200-45579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:45577200-45580200	Weak transcription	Colonic Mucosa	Colon
10	chr18:45577200-45595200	Weak transcription	Lung	lung
11	chr18:45577600-45578800	Weak transcription	Spleen	Spleen
12	chr18:45577600-45579200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr18:45577800-45580200	Weak transcription	Placenta	Placenta
14	chr18:45578200-45578800	Weak transcription	Esophagus	oesophagus
15	chr18:45578200-45579400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr18:45578200-45586000	Weak transcription	Stomach Mucosa	stomach
17	chr18:45578400-45579600	Enhancers	Ovary	ovary
18	chr18:45578600-45579800	Enhancers	Fetal Intestine Large	intestine

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