Variant report

Variant	rs982443
Chromosome Location	chr11:106845361-106845362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11211992	0.96[ASN][1000 genomes]
rs11211998	0.94[ASN][1000 genomes]
rs11211999	0.94[ASN][1000 genomes]
rs11212000	0.94[ASN][1000 genomes]
rs11821702	0.95[ASN][1000 genomes]
rs12574600	0.98[ASN][1000 genomes]
rs12575602	0.87[ASN][1000 genomes]
rs12576139	0.82[ASN][1000 genomes]
rs12576946	0.98[ASN][1000 genomes]
rs17106266	0.98[ASN][1000 genomes]
rs17106274	0.96[ASN][1000 genomes]
rs17106277	0.96[ASN][1000 genomes]
rs17106280	0.96[ASN][1000 genomes]
rs17106282	0.96[ASN][1000 genomes]
rs2124303	0.88[JPT][hapmap]
rs2280620	0.90[JPT][hapmap]
rs4362108	0.98[ASN][1000 genomes]
rs4753783	0.98[ASN][1000 genomes]
rs4754176	0.96[ASN][1000 genomes]
rs6588940	0.84[ASN][1000 genomes]
rs73553883	0.82[ASN][1000 genomes]
rs7934709	0.83[AMR][1000 genomes];0.84[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	nsv531938	chr11:106760733-107156814	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs982443	GUCY1A2	cis	parietal	SCAN
rs982443	MMP1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106828400-106857400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:106830800-106853600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:106832000-106851000	Weak transcription	Pancreas	Pancrea
4	chr11:106833400-106857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:106840600-106853600	Weak transcription	Brain Anterior Caudate	brain
6	chr11:106840800-106845400	Weak transcription	Brain Angular Gyrus	brain
7	chr11:106840800-106845600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:106840800-106846200	Weak transcription	Ovary	ovary
9	chr11:106841000-106847400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:106841000-106848400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:106843200-106848000	Enhancers	Fetal Heart	heart
12	chr11:106844200-106846400	Enhancers	Fetal Lung	lung
13	chr11:106845200-106845400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:106845200-106845600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:106845200-106846000	Enhancers	Dnd41	blood
16	chr11:106845200-106846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte 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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