Variant report

Variant	rs13144195
Chromosome Location	chr4:26461373-26461374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26460527..26461421-chr4:26721272..26722269,7	MCF-7	breast:
2	chr4:26460549..26461471-chr4:26721284..26722071,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13119984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13121359	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13130981	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13144054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17578817	0.82[AMR][1000 genomes]
rs2725328	0.81[ASN][1000 genomes]
rs2788858	0.81[ASN][1000 genomes]
rs2788860	0.85[ASN][1000 genomes]
rs33999169	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs946347	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv10468	chr4:26453879-26462957	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv2757048	chr4:26456267-26461885	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv2759237	chr4:26456267-26461885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13144195	CCKAR	cis	Esophagus Muscularis	GTEx
rs13144195	PI4K2B	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26458000-26466000	Enhancers	Fetal Stomach	stomach
2	chr4:26458400-26461400	Enhancers	Primary hematopoietic stem cells	blood
3	chr4:26458600-26462000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:26458800-26461800	Enhancers	Fetal Thymus	thymus
5	chr4:26459000-26462000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:26459400-26462000	Enhancers	Rectal Smooth Muscle	rectum
7	chr4:26460000-26461400	Enhancers	HepG2	liver
8	chr4:26460200-26461400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:26460200-26461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:26460200-26464800	Weak transcription	HSMMtube	muscle
11	chr4:26460400-26461400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:26460800-26461400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:26460800-26461400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr4:26460800-26462000	Enhancers	NH-A	brain
15	chr4:26461000-26461400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:26461000-26461400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:26461000-26461400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:26461000-26461400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:26461000-26461400	Enhancers	Adipose Nuclei	Adipose
20	chr4:26461000-26461400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:26461000-26461800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:26461000-26461800	Flanking Active TSS	Osteobl	bone
23	chr4:26461000-26462000	Enhancers	HSMM	muscle
24	chr4:26461200-26461400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:26461200-26461400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr4:26461200-26461600	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr4:26461200-26463600	Weak transcription	Fetal Muscle Leg	muscle

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