Variant report

Variant	rs1224953
Chromosome Location	chr11:76485489-76485490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76479171..76486141-chr11:76745972..76752965,12	MCF-7	breast:
2	chr11:76484600..76489060-chr11:76497459..76500806,4	K562	blood:
3	chr11:76446515..76448277-chr11:76483918..76485534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198488	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1149595	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1149600	0.86[EUR][1000 genomes]
rs1149602	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1149603	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1149611	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1149613	0.88[ASN][1000 genomes]
rs1149620	0.88[EUR][1000 genomes]
rs1224954	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876361	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1224953	GUCY2EP	cis	Adipose Subcutaneous	GTEx
rs1224953	GUCY2EP	cis	Thyroid	GTEx
rs1224953	RP11-672A2.1	cis	Adipose Subcutaneous	GTEx
rs1224953	RP11-21L23.4	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76474000-76485600	Enhancers	Left Ventricle	heart
2	chr11:76476200-76485600	Enhancers	Fetal Intestine Large	intestine
3	chr11:76478800-76485600	Enhancers	Placenta	Placenta
4	chr11:76480200-76486200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:76480600-76485600	Enhancers	Stomach Mucosa	stomach
6	chr11:76481000-76487800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:76481400-76485600	Enhancers	Ovary	ovary
8	chr11:76482000-76485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:76482000-76485600	Enhancers	Right Atrium	heart
10	chr11:76482800-76486000	Enhancers	Liver	Liver
11	chr11:76482800-76492400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:76483000-76485800	Enhancers	Hela-S3	cervix
13	chr11:76483400-76485600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:76483600-76485600	Enhancers	Esophagus	oesophagus
15	chr11:76483600-76486000	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:76483600-76487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:76483800-76485600	Enhancers	Pancreas	Pancrea
18	chr11:76483800-76485600	Enhancers	Psoas Muscle	Psoas
19	chr11:76484000-76485600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:76484000-76485600	Enhancers	Aorta	Aorta
21	chr11:76484200-76485600	Enhancers	HepG2	liver
22	chr11:76484200-76485800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:76484600-76485600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:76484600-76485600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:76484600-76485600	Enhancers	HMEC	breast
26	chr11:76484600-76485800	Enhancers	NHEK	skin
27	chr11:76484600-76487400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:76485200-76485600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:76485200-76486000	ZNF genes & repeats	A549	lung

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