Variant report

Variant	rs2653659
Chromosome Location	chr18:45325044-45325045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12455876	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12955534	0.90[EUR][1000 genomes]
rs1502606	0.82[EUR][1000 genomes]
rs1623734	0.81[EUR][1000 genomes]
rs1787186	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1792659	0.83[EUR][1000 genomes]
rs1792663	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1792664	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1792678	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1792686	0.84[EUR][1000 genomes]
rs1847173	0.81[EUR][1000 genomes]
rs2852972	0.81[EUR][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	esv3425854	chr18:45188942-45336590	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2653659	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45322200-45325200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr18:45322200-45325200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:45322200-45325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr18:45322200-45325400	Weak transcription	Spleen	Spleen
5	chr18:45322200-45325800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:45322200-45326000	Weak transcription	Right Atrium	heart
7	chr18:45322200-45329200	Weak transcription	Lung	lung
8	chr18:45322200-45331200	Weak transcription	Pancreas	Pancrea
9	chr18:45322600-45325200	Weak transcription	HUVEC	blood vessel
10	chr18:45323600-45329400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr18:45324800-45325200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:45324800-45325200	Enhancers	HMEC	breast
13	chr18:45324800-45325400	Enhancers	Ovary	ovary
14	chr18:45324800-45325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:45325000-45325400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:45325000-45326200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:45325000-45326400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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