Variant report

Variant	rs2788860
Chromosome Location	chr4:26453435-26453436
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10939110	0.81[CEU][hapmap]
rs11723965	0.89[ASN][1000 genomes]
rs13114911	0.81[CEU][hapmap]
rs13116206	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13119984	0.86[ASN][1000 genomes]
rs13121359	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13122886	0.88[EUR][1000 genomes]
rs13130981	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144054	0.85[ASN][1000 genomes]
rs13144195	0.85[ASN][1000 genomes]
rs2095831	0.89[EUR][1000 genomes]
rs2725327	0.90[EUR][1000 genomes]
rs2725328	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2788858	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2788864	0.81[CEU][hapmap]
rs33999169	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4549366	0.86[EUR][1000 genomes]
rs4569739	0.86[EUR][1000 genomes]
rs6811910	0.88[EUR][1000 genomes]
rs6818128	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7672424	0.86[EUR][1000 genomes]
rs7693785	0.87[EUR][1000 genomes]
rs7693842	0.86[EUR][1000 genomes]
rs7694133	0.86[EUR][1000 genomes]
rs7694790	0.89[EUR][1000 genomes]
rs946347	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10467	chr4:26442264-26454782	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
2	esv3464934	chr4:26442625-26454253	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3464936	chr4:26442630-26454272	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3464935	chr4:26442653-26454262	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3464937	chr4:26442766-26454169	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv515501	chr4:26446006-26457168	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv878767	chr4:26451326-26463490	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2788860	CCKAR	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
2	chr4:26436400-26456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26440800-26454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:26443600-26454200	Weak transcription	Fetal Lung	lung
5	chr4:26444200-26453600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:26445000-26461000	Weak transcription	HSMM	muscle
7	chr4:26446600-26456000	Weak transcription	HSMMtube	muscle
8	chr4:26452400-26453600	Weak transcription	Ovary	ovary
9	chr4:26452600-26453600	Weak transcription	Pancreas	Pancrea
10	chr4:26453200-26453800	Enhancers	Osteobl	bone
11	chr4:26453200-26459600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:26453400-26455000	Enhancers	Colon Smooth Muscle	Colon
16	chr4:26453400-26455200	Enhancers	Fetal Thymus	thymus

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