Variant report

Variant	rs6588940
Chromosome Location	chr11:106837790-106837791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11211990	0.92[ASN][1000 genomes]
rs11821702	0.80[ASN][1000 genomes]
rs12574600	0.81[ASN][1000 genomes]
rs12575602	0.88[ASN][1000 genomes]
rs12576139	0.97[ASN][1000 genomes]
rs12576946	0.81[ASN][1000 genomes]
rs17106266	0.81[ASN][1000 genomes]
rs4362108	0.81[ASN][1000 genomes]
rs4753783	0.81[ASN][1000 genomes]
rs73553883	0.97[ASN][1000 genomes]
rs7934709	0.98[ASN][1000 genomes]
rs982443	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
rs6588940	GUCY1A2	cis	parietal	SCAN
rs6588940	C11orf65	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106828400-106840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:106828400-106857400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:106830400-106841400	Enhancers	Fetal Heart	heart
4	chr11:106830800-106853600	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:106832000-106840400	Weak transcription	Ovary	ovary
6	chr11:106832000-106851000	Weak transcription	Pancreas	Pancrea
7	chr11:106832400-106839800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:106832600-106839600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:106832600-106839600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:106832600-106839600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:106832600-106839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:106832600-106840200	Weak transcription	Brain Anterior Caudate	brain
13	chr11:106832800-106840000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:106833000-106837800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:106833400-106857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:106835400-106840000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:106836600-106837800	Weak transcription	Fetal Brain Male	brain
18	chr11:106836600-106840200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:106836600-106840400	Weak transcription	NHDF-Ad	bronchial
20	chr11:106837400-106838200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:106837400-106838800	Enhancers	Fetal Lung	lung
22	chr11:106837600-106837800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:106837600-106838200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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